{"id":"https://openalex.org/W7128600766","doi":"https://doi.org/10.3390/ijms27041735","title":"Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant","display_name":"Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant","publication_year":2026,"publication_date":"2026-02-11","ids":{"openalex":"https://openalex.org/W7128600766","doi":"https://doi.org/10.3390/ijms27041735","pmid":"https://pubmed.ncbi.nlm.nih.gov/41751872","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/12940244"},"language":"en","primary_location":{"id":"doi:10.3390/ijms27041735","doi":"https://doi.org/10.3390/ijms27041735","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms27041735","pdf_url":"https://www.mdpi.com/1422-0067/27/4/1735/pdf?version=1770808274","source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.mdpi.com/1422-0067/27/4/1735/pdf?version=1770808274","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5117762292","display_name":"Cristina-Loredana Pantea","orcid":"https://orcid.org/0009-0000-2016-6620","observed_orcids":["https://orcid.org/0009-0000-2016-6620"]},"institutions":[{"id":"https://openalex.org/I4210088791","display_name":"Victor Babe\u0219 University of Medicine and Pharmacy Timi\u0219oara","ror":"https://ror.org/00afdp487","country_code":"RO","type":"education","lineage":["https://openalex.org/I4210088791"]}],"countries":["RO"],"is_corresponding":false,"raw_author_name":"Cristina-Loredana Pantea","raw_affiliation_strings":["Doctoral School, \u201cVictor Babes\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania","Regional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children \u201cLouis Turcanu\u201d, Part of ERN-ITHACA, 300011 Timisoara, Romania"],"raw_orcid":"https://orcid.org/0009-0000-2016-6620","affiliations":[{"raw_affiliation_string":"Doctoral School, \u201cVictor Babes\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania","institution_ids":["https://openalex.org/I4210088791"]},{"raw_affiliation_string":"Regional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children \u201cLouis Turcanu\u201d, Part of ERN-ITHACA, 300011 Timisoara, Romania","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038869651","display_name":"Mihaela Tatiana Bataneant","orcid":"https://orcid.org/0009-0008-4116-8156","observed_orcids":["https://orcid.org/0009-0008-4116-8156"]},"institutions":[{"id":"https://openalex.org/I4210088791","display_name":"Victor Babe\u0219 University of Medicine and Pharmacy Timi\u0219oara","ror":"https://ror.org/00afdp487","country_code":"RO","type":"education","lineage":["https://openalex.org/I4210088791"]}],"countries":["RO"],"is_corresponding":true,"raw_author_name":"Mihaela Bataneant","raw_affiliation_strings":["Second Pediatric Clinic, Clinical Emergency Hospital for Children \u201cLouis Turcanu\u201d, 300011 Timisoara, Romania","Third Pediatrics Clinic, \u201cVictor Babes\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Second Pediatric Clinic, Clinical Emergency Hospital for Children \u201cLouis Turcanu\u201d, 300011 Timisoara, Romania","institution_ids":[]},{"raw_affiliation_string":"Third Pediatrics Clinic, \u201cVictor Babes\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania","institution_ids":["https://openalex.org/I4210088791"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085044237","display_name":"Cristian G. Zimbru","orcid":"https://orcid.org/0000-0002-2652-0931","observed_orcids":["https://orcid.org/0000-0002-2652-0931"]},"institutions":[{"id":"https://openalex.org/I3122695212","display_name":"Politehnica University of Timisoara","ror":"https://ror.org/02v91gy68","country_code":"RO","type":"education","lineage":["https://openalex.org/I3122695212"]}],"countries":["RO"],"is_corresponding":false,"raw_author_name":"Cristian G. Zimbru","raw_affiliation_strings":["Department of Automation and Applied Informatics, Politehnica University of Timisoara, 300006 Timisoara, Romania"],"raw_orcid":"https://orcid.org/0000-0002-2652-0931","affiliations":[{"raw_affiliation_string":"Department of Automation and Applied Informatics, Politehnica University of Timisoara, 300006 Timisoara, Romania","institution_ids":["https://openalex.org/I3122695212"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040642891","display_name":"M. \u015eerban","orcid":"https://orcid.org/0000-0003-0468-7172","observed_orcids":["https://orcid.org/0000-0003-0468-7172"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Margit Serban","raw_affiliation_strings":["Hematology and Oncology Department, Clinical Emergency Hospital for Children \u201cLouis Turcanu\u201d, 300011 Timisoara, Romania"],"raw_orcid":"https://orcid.org/0000-0003-0468-7172","affiliations":[{"raw_affiliation_string":"Hematology and Oncology Department, Clinical Emergency Hospital for Children \u201cLouis Turcanu\u201d, 300011 Timisoara, Romania","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056184471","display_name":"Maria Puiu","orcid":"https://orcid.org/0000-0002-4078-2831","observed_orcids":["https://orcid.org/0000-0002-4078-2831"]},"institutions":[{"id":"https://openalex.org/I4210088791","display_name":"Victor Babe\u0219 University of Medicine and Pharmacy Timi\u0219oara","ror":"https://ror.org/00afdp487","country_code":"RO","type":"education","lineage":["https://openalex.org/I4210088791"]},{"id":"https://openalex.org/I4405272116","display_name":"Institutul de Cercetare-Dezvoltare \u00een Genomic\u0103","ror":"https://ror.org/03kf9ce66","country_code":"RO","type":"government","lineage":["https://openalex.org/I4405272116"]}],"countries":["RO"],"is_corresponding":false,"raw_author_name":"Maria Puiu","raw_affiliation_strings":["Doctoral School, \u201cVictor Babes\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania","Institute for Research and Development in Genomics (ICDG), 020021 Bucuresti, Romania"],"raw_orcid":"https://orcid.org/0000-0002-4078-2831","affiliations":[{"raw_affiliation_string":"Doctoral School, \u201cVictor Babes\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania","institution_ids":["https://openalex.org/I4210088791"]},{"raw_affiliation_string":"Institute for Research and Development in Genomics (ICDG), 020021 Bucuresti, Romania","institution_ids":["https://openalex.org/I4405272116"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5087722141","display_name":"Adela Chiri\u021b\u0103-Emandi","orcid":"https://orcid.org/0000-0001-7554-4625","observed_orcids":["https://orcid.org/0000-0001-7554-4625"]},"institutions":[{"id":"https://openalex.org/I4210088791","display_name":"Victor Babe\u0219 University of Medicine and Pharmacy Timi\u0219oara","ror":"https://ror.org/00afdp487","country_code":"RO","type":"education","lineage":["https://openalex.org/I4210088791"]}],"countries":["RO"],"is_corresponding":false,"raw_author_name":"Adela Chirita-Emandi","raw_affiliation_strings":["Department of Microscopic Morphology, Genetics Discipline, Center of Genomic Medicine, \u201cVictor Babe\u0219\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania","Regional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children \u201cLouis Turcanu\u201d, Part of ERN-ITHACA, 300011 Timisoara, Romania"],"raw_orcid":"https://orcid.org/0000-0001-7554-4625","affiliations":[{"raw_affiliation_string":"Department of Microscopic Morphology, Genetics Discipline, Center of Genomic Medicine, \u201cVictor Babe\u0219\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania","institution_ids":["https://openalex.org/I4210088791"]},{"raw_affiliation_string":"Regional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children \u201cLouis Turcanu\u201d, Part of ERN-ITHACA, 300011 Timisoara, Romania","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5038869651"],"corresponding_institution_ids":["https://openalex.org/I4210088791"],"apc_list":{"value":2900,"currency":"CHF","value_usd":3499},"apc_paid":{"value":2900,"currency":"CHF","value_usd":3499},"fwci":3.8809,"has_fulltext":true,"cited_by_count":1,"citation_normalized_percentile":{"value":0.86583757,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":91,"max":95},"biblio":{"volume":"27","issue":"4","first_page":"1735","last_page":"1735"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12919","display_name":"Blood disorders and treatments","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12919","display_name":"Blood disorders and treatments","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/severe-congenital-neutropenia","display_name":"severe congenital neutropenia","score":0.9200000166893005},{"id":"https://openalex.org/keywords/phenotypic-variation","display_name":"phenotypic variability","score":0.9710000157356262},{"id":"https://openalex.org/keywords/homozygous-variant","display_name":"homozygous variant","score":0.8410000205039978},{"id":"https://openalex.org/keywords/consanguinity","display_name":"consanguinity","score":0.9399999976158142},{"id":"https://openalex.org/keywords/founder-effect","display_name":"founder effect","score":0.9309999942779541},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.8379999995231628},{"id":"https://openalex.org/keywords/severe-infection","display_name":"serious infections","score":0.7739999890327454},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.8600000143051147},{"id":"https://openalex.org/keywords/short-stature","display_name":"short stature","score":0.7929999828338623},{"id":"https://openalex.org/keywords/prognosis","display_name":"prognosis","score":0.39800000190734863}],"concepts":[{"id":"https://openalex.org/C2908751872","wikidata":"https://www.wikidata.org/wiki/Q1337441","display_name":"Congenital Neutropenia","level":4,"score":0.8824999928474426},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.6015999913215637},{"id":"https://openalex.org/C2777063308","wikidata":"https://www.wikidata.org/wiki/Q1435822","display_name":"Neutropenia","level":3,"score":0.5824999809265137},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.5162000060081482},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.49149999022483826},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.48080000281333923},{"id":"https://openalex.org/C2777871287","wikidata":"https://www.wikidata.org/wiki/Q7502090","display_name":"Short stature","level":2,"score":0.4580000042915344},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4487999975681305},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.38609999418258667},{"id":"https://openalex.org/C2779701055","wikidata":"https://www.wikidata.org/wiki/Q929833","display_name":"Rare disease","level":3,"score":0.34150001406669617},{"id":"https://openalex.org/C153471976","wikidata":"https://www.wikidata.org/wiki/Q2873354","display_name":"Heterozygote advantage","level":4,"score":0.3379000127315521},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3167000114917755},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.30480000376701355},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.29809999465942383},{"id":"https://openalex.org/C195054827","wikidata":"https://www.wikidata.org/wiki/Q504568","display_name":"Founder effect","level":5,"score":0.2793000042438507},{"id":"https://openalex.org/C109159458","wikidata":"https://www.wikidata.org/wiki/Q919283","display_name":"Haematopoiesis","level":3,"score":0.2727000117301941},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.258899986743927},{"id":"https://openalex.org/C2993967602","wikidata":"https://www.wikidata.org/wiki/Q5532932","display_name":"Genetic variants","level":4,"score":0.25839999318122864},{"id":"https://openalex.org/C3020646490","wikidata":"https://www.wikidata.org/wiki/Q25203551","display_name":"Clinical phenotype","level":4,"score":0.2549000084400177},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.2538999915122986}],"mesh":[{"descriptor_ui":"D000080984","descriptor_name":"Congenital Bone Marrow Failure Syndromes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009503","descriptor_name":"Neutropenia","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":true},{"descriptor_ui":"D009503","descriptor_name":"Neutropenia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009503","descriptor_name":"Neutropenia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012383","descriptor_name":"Romania","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.3390/ijms27041735","doi":"https://doi.org/10.3390/ijms27041735","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms27041735","pdf_url":"https://www.mdpi.com/1422-0067/27/4/1735/pdf?version=1770808274","source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"},{"id":"pmid:41751872","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/41751872","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International journal of molecular sciences","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:12940244","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12940244/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Int J Mol Sci","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.3390/ijms27041735","doi":"https://doi.org/10.3390/ijms27041735","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms27041735","pdf_url":"https://www.mdpi.com/1422-0067/27/4/1735/pdf?version=1770808274","source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.98580002784729,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7128600766.pdf","grobid_xml":"https://content.openalex.org/works/W7128600766.grobid-xml"},"referenced_works_count":38,"referenced_works":["https://openalex.org/W1112683941","https://openalex.org/W1939515160","https://openalex.org/W1954735303","https://openalex.org/W1978327270","https://openalex.org/W2000076988","https://openalex.org/W2030188941","https://openalex.org/W2116980411","https://openalex.org/W2121566197","https://openalex.org/W2123183554","https://openalex.org/W2135137305","https://openalex.org/W2622882222","https://openalex.org/W2753240137","https://openalex.org/W2884909911","https://openalex.org/W2897067527","https://openalex.org/W2961921694","https://openalex.org/W2963013270","https://openalex.org/W2975177798","https://openalex.org/W2975392765","https://openalex.org/W3101699390","https://openalex.org/W4221061706","https://openalex.org/W4283363193","https://openalex.org/W4311672277","https://openalex.org/W4323025004","https://openalex.org/W4367394114","https://openalex.org/W4376872499","https://openalex.org/W4384498827","https://openalex.org/W4388805459","https://openalex.org/W4389323618","https://openalex.org/W4394566012","https://openalex.org/W4402130497","https://openalex.org/W4405100204","https://openalex.org/W4405738648","https://openalex.org/W4406119172","https://openalex.org/W4408504462","https://openalex.org/W4409479648","https://openalex.org/W4410866512","https://openalex.org/W4411224023","https://openalex.org/W4416729260"],"related_works":["https://openalex.org/W2280738677","https://openalex.org/W3025101013","https://openalex.org/W2884909911","https://openalex.org/W2123183554","https://openalex.org/W2000076988","https://openalex.org/W4367394114","https://openalex.org/W4237827860","https://openalex.org/W4384498827","https://openalex.org/W4244295475","https://openalex.org/W3102676868"],"abstract_inverted_index":{"More":[0],"than":[1],"30":[2],"distinct":[3],"genetic":[4,36],"entities":[5],"associated":[6],"with":[7,58,74,86,108,191],"severe":[8,126],"congenital":[9],"neutropenia":[10,124],"(SCN)":[11],"have":[12],"been":[13,32],"described.":[14],"SCN":[15,39,51],"has":[16,31],"a":[17,35,87,119,158,182,186],"risk":[18],"of":[19,22,38,49,71,90,96],"clonal":[20],"expansion":[21],"mutated":[23],"hematopoietic":[24],"cells.":[25],"Jagunal":[26],"homolog":[27],"1":[28],"(JAGN1)":[29],"deficiency":[30,60,76,110],"described":[33],"as":[34,135],"cause":[37],"and":[40,67,100,138,161],"is":[41,61],"now":[42],"estimated":[43],"to":[44,181],"account":[45],"for":[46],"approximately":[47],"10%":[48],"all":[50],"cases.":[52,92],"One":[53],"prevalent":[54],"variant":[55,82,115,160],"in":[56,105],"patients":[57,73,99,103,155,174],"JAGN1":[59,75,80,109,169],"NM_032492.4:c.63G>T":[62],"(p.Glu21Asp).":[63],"The":[64,93,171],"clinical":[65,94,189],"description":[66],"disease":[68],"evolution":[69],"study":[70],"Romanian":[72,98,173],"caused":[77,111],"by":[78,112],"the":[79,106,113,147],"c.63G>T":[81,114],"were":[83],"performed":[84],"together":[85],"literature":[88,107],"review":[89],"similar":[91],"characterization":[95],"six":[97],"nine":[101],"additional":[102],"reported":[104],"(40%":[116],"female)":[117],"revealed":[118],"wide":[120],"phenotypic":[121],"spectrum,":[122],"including:":[123],"(all),":[125],"infections":[127],"(80%),":[128],"developmental":[129],"delay":[130],"(13%),":[131],"dental":[132],"problems":[133],"such":[134],"stomatitis/periodontitis":[136],"(66%),":[137],"short":[139],"stature":[140],"(7%).":[141],"No":[142],"patient":[143],"developed":[144],"malignancy/leukemia":[145],"during":[146],"follow-up":[148],"period":[149],"(15":[150],"\u00b1":[151],"8.1":[152],"years).":[153],"Most":[154],"(93%)":[156],"had":[157,166,185],"homozygous":[159,177],"consanguineous":[162],"background,":[163],"while":[164],"one":[165],"compound":[167],"heterozygous":[168],"variants.":[170],"five":[172],"carrying":[175],"this":[176],"variant,":[178],"possibly":[179],"due":[180],"founder":[183],"effect,":[184],"relatively":[187],"favorable":[188],"outcome,":[190],"good":[192],"overall":[193],"prognosis.":[194]},"counts_by_year":[{"year":2026,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2026-02-11T00:00:00"}
