{"id":"https://openalex.org/W3164440397","doi":"https://doi.org/10.1186/s43042-021-00136-1","title":"Screening of NKX2.5 gene in Moroccan Tetralogy of Fallot (TOF) patients: worldwide mutation rate comparisons show a significant association between R25C variant and TOF phenotype","display_name":"Screening of NKX2.5 gene in Moroccan Tetralogy of Fallot (TOF) patients: worldwide mutation rate comparisons show a significant association between R25C variant and TOF phenotype","publication_year":2021,"publication_date":"2021-03-11","ids":{"openalex":"https://openalex.org/W3164440397","doi":"https://doi.org/10.1186/s43042-021-00136-1","mag":"3164440397"},"language":"en","primary_location":{"id":"doi:10.1186/s43042-021-00136-1","doi":"https://doi.org/10.1186/s43042-021-00136-1","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s43042-021-00136-1","pdf_url":"https://jmhg.springeropen.com/counter/pdf/10.1186/s43042-021-00136-1","source":{"id":"https://openalex.org/S3034796422","display_name":"Egyptian Journal of Medical Human Genetics","issn_l":"1110-8630","issn":["1110-8630","2090-2441"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jpps-1","jufo-1","poland-40","russia-white-list-4","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Egyptian Journal of Medical Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","datacite","doaj"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://jmhg.springeropen.com/counter/pdf/10.1186/s43042-021-00136-1","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5087445484","display_name":"Ihssane El Bouchikhi","orcid":"https://orcid.org/0000-0002-1880-7940","observed_orcids":["https://orcid.org/0000-0002-1880-7940"]},"institutions":[{"id":"https://openalex.org/I4210134492","display_name":"Centre Hospitalier Universitaire Hassan II","ror":"https://ror.org/03m2nqg26","country_code":"MA","type":"healthcare","lineage":["https://openalex.org/I4210134492"]}],"countries":["MA"],"is_corresponding":true,"raw_author_name":"Ihssane EL Bouchikhi","raw_affiliation_strings":["Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, 30000, Fez, Morocco"],"raw_orcid":"https://orcid.org/0000-0002-1880-7940","affiliations":[{"raw_affiliation_string":"Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, 30000, Fez, Morocco","institution_ids":["https://openalex.org/I4210134492"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076181056","display_name":"Khadija Belhassan","orcid":"https://orcid.org/0000-0002-8562-0246","observed_orcids":["https://orcid.org/0000-0002-8562-0246"]},"institutions":[{"id":"https://openalex.org/I4210134492","display_name":"Centre Hospitalier Universitaire Hassan II","ror":"https://ror.org/03m2nqg26","country_code":"MA","type":"healthcare","lineage":["https://openalex.org/I4210134492"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"Khadija Belhassan","raw_affiliation_strings":["Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, Fez, Morocco","Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, 30000, Fez, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, Fez, Morocco","institution_ids":["https://openalex.org/I4210134492"]},{"raw_affiliation_string":"Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, 30000, Fez, Morocco","institution_ids":["https://openalex.org/I4210134492"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023554851","display_name":"Fatima Zohra Moufid","orcid":"https://orcid.org/0000-0002-7291-5977","observed_orcids":["https://orcid.org/0000-0002-7291-5977"]},"institutions":[{"id":"https://openalex.org/I4210134492","display_name":"Centre Hospitalier Universitaire Hassan II","ror":"https://ror.org/03m2nqg26","country_code":"MA","type":"healthcare","lineage":["https://openalex.org/I4210134492"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"Fatima Zohra Moufid","raw_affiliation_strings":["Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, Fez, Morocco","Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, 30000, Fez, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, Fez, Morocco","institution_ids":["https://openalex.org/I4210134492"]},{"raw_affiliation_string":"Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, 30000, Fez, Morocco","institution_ids":["https://openalex.org/I4210134492"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006340471","display_name":"Laila Bouguenouch","orcid":"https://orcid.org/0000-0002-4082-5432","observed_orcids":["https://orcid.org/0000-0002-4082-5432","https://orcid.org/0000-0002-2851-8296"]},"institutions":[{"id":"https://openalex.org/I4210134492","display_name":"Centre Hospitalier Universitaire Hassan II","ror":"https://ror.org/03m2nqg26","country_code":"MA","type":"healthcare","lineage":["https://openalex.org/I4210134492"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"Laila Bouguenouch","raw_affiliation_strings":["Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, Fez, Morocco","Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, 30000, Fez, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, Fez, Morocco","institution_ids":["https://openalex.org/I4210134492"]},{"raw_affiliation_string":"Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, 30000, Fez, Morocco","institution_ids":["https://openalex.org/I4210134492"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010347117","display_name":"Imane Samri","orcid":"https://orcid.org/0000-0002-2586-9015","observed_orcids":["https://orcid.org/0000-0002-2586-9015"]},"institutions":[{"id":"https://openalex.org/I4210134492","display_name":"Centre Hospitalier Universitaire Hassan II","ror":"https://ror.org/03m2nqg26","country_code":"MA","type":"healthcare","lineage":["https://openalex.org/I4210134492"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"Imane Samri","raw_affiliation_strings":["Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, Fez, Morocco","Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, 30000, Fez, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, Fez, Morocco","institution_ids":["https://openalex.org/I4210134492"]},{"raw_affiliation_string":"Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, 30000, Fez, Morocco","institution_ids":["https://openalex.org/I4210134492"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084011685","display_name":"Mohammed Iraqui Houssa\u00efni","orcid":"https://orcid.org/0000-0002-8563-0559","observed_orcids":["https://orcid.org/0000-0002-8563-0559"]},"institutions":[{"id":"https://openalex.org/I81605866","display_name":"Sidi Mohamed Ben Abdellah University","ror":"https://ror.org/04efg9a07","country_code":"MA","type":"education","lineage":["https://openalex.org/I81605866"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"Mohammed Iraqui Houssa\u00efni","raw_affiliation_strings":["Laboratory of Microbial Biotechnology, Faculty of Sciences and Techniques, University of Sidi Mohammed Ben Abdellah, 30000, Fez, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Microbial Biotechnology, Faculty of Sciences and Techniques, University of Sidi Mohammed Ben Abdellah, 30000, Fez, Morocco","institution_ids":["https://openalex.org/I81605866"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026447446","display_name":"Karim Ouldim","orcid":"https://orcid.org/0000-0003-3974-5889","observed_orcids":["https://orcid.org/0000-0003-3974-5889"]},"institutions":[{"id":"https://openalex.org/I4210134492","display_name":"Centre Hospitalier Universitaire Hassan II","ror":"https://ror.org/03m2nqg26","country_code":"MA","type":"healthcare","lineage":["https://openalex.org/I4210134492"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"Karim Ouldim","raw_affiliation_strings":["Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, Fez, Morocco","Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, 30000, Fez, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, Fez, Morocco","institution_ids":["https://openalex.org/I4210134492"]},{"raw_affiliation_string":"Laboratory of Medical Genetics and Oncogenetics, HASSAN II University Hospital, 30000, Fez, Morocco","institution_ids":["https://openalex.org/I4210134492"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5010224760","display_name":"Samir Atmani","orcid":"https://orcid.org/0000-0002-7436-4865","observed_orcids":["https://orcid.org/0000-0002-7436-4865"]},"institutions":[{"id":"https://openalex.org/I4210134492","display_name":"Centre Hospitalier Universitaire Hassan II","ror":"https://ror.org/03m2nqg26","country_code":"MA","type":"healthcare","lineage":["https://openalex.org/I4210134492"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"Samir Atmani","raw_affiliation_strings":["Medico-Surgical Unit of Cardio-pediatrics, Department of Pediatrics, HASSAN II University Hospital, Fez, Morocco","Medico-Surgical Unit of Cardio-pediatrics, Department of Pediatrics, HASSAN II University Hospital, 30000, Fez, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medico-Surgical Unit of Cardio-pediatrics, Department of Pediatrics, HASSAN II University Hospital, Fez, Morocco","institution_ids":["https://openalex.org/I4210134492"]},{"raw_affiliation_string":"Medico-Surgical Unit of Cardio-pediatrics, Department of Pediatrics, HASSAN II University Hospital, 30000, Fez, Morocco","institution_ids":["https://openalex.org/I4210134492"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5087445484"],"corresponding_institution_ids":["https://openalex.org/I4210134492"],"apc_list":{"value":0,"currency":"USD","value_usd":0},"apc_paid":null,"fwci":0.2097,"has_fulltext":true,"cited_by_count":4,"citation_normalized_percentile":{"value":0.36483571,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"22","issue":"1","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11677","display_name":"Congenital heart defects research","score":0.8672000169754028,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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"}},"topics":[{"id":"https://openalex.org/T11677","display_name":"Congenital heart defects research","score":0.8672000169754028,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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"}},{"id":"https://openalex.org/T10300","display_name":"Congenital Heart Disease Studies","score":0.09210000187158585,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.009700000286102295,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/tetralogy-of-fallot","display_name":"tetralogy of Fallot","score":0.9589999914169312},{"id":"https://openalex.org/keywords/nkx2-5","display_name":"Nkx2.5","score":0.9850000143051147},{"id":"https://openalex.org/keywords/mutation-rate","display_name":"mutation rate","score":0.7450000047683716},{"id":"https://openalex.org/keywords/congenital-heart-disease","display_name":"congenital heart disease","score":0.7839999794960022},{"id":"https://openalex.org/keywords/splicing","display_name":"splicing","score":0.6359999775886536},{"id":"https://openalex.org/keywords/atrial-septal-defect","display_name":"atrial septal defect","score":0.8569999933242798},{"id":"https://openalex.org/keywords/prenatal-screening","display_name":"prenatal screening","score":0.5920000076293945},{"id":"https://openalex.org/keywords/moroccan-population","display_name":"Moroccan population","score":0.5199999809265137}],"concepts":[{"id":"https://openalex.org/C2778646171","wikidata":"https://www.wikidata.org/wiki/Q445307","display_name":"Tetralogy of Fallot","level":3,"score":0.9747570753097534},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.6286523342132568},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.6027312874794006},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.595366895198822},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4373069405555725},{"id":"https://openalex.org/C2780074459","wikidata":"https://www.wikidata.org/wiki/Q389735","display_name":"Heart disease","level":2,"score":0.32722580432891846},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1186/s43042-021-00136-1","doi":"https://doi.org/10.1186/s43042-021-00136-1","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s43042-021-00136-1","pdf_url":"https://jmhg.springeropen.com/counter/pdf/10.1186/s43042-021-00136-1","source":{"id":"https://openalex.org/S3034796422","display_name":"Egyptian Journal of Medical Human Genetics","issn_l":"1110-8630","issn":["1110-8630","2090-2441"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jpps-1","jufo-1","poland-40","russia-white-list-4","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Egyptian Journal of Medical Human Genetics","raw_type":"journal-article"},{"id":"pmh:oai:doaj.org/article:2fc64bb9841f4df88cb233028ea67f7d","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/2fc64bb9841f4df88cb233028ea67f7d","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-7 (2021)","raw_type":"article"},{"id":"doi:10.60692/3pckf-xyn36","doi":"https://doi.org/10.60692/3pckf-xyn36","is_oa":true,"landing_page_url":"https://doi.org/10.60692/3pckf-xyn36","pdf_url":null,"source":{"id":"https://openalex.org/S7407051682","display_name":"Greater South Information System","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article-journal"},{"id":"doi:10.60692/e7mfy-67c45","doi":"https://doi.org/10.60692/e7mfy-67c45","is_oa":true,"landing_page_url":"https://doi.org/10.60692/e7mfy-67c45","pdf_url":null,"source":{"id":"https://openalex.org/S7407051682","display_name":"Greater South Information System","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article-journal"}],"best_oa_location":{"id":"doi:10.1186/s43042-021-00136-1","doi":"https://doi.org/10.1186/s43042-021-00136-1","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s43042-021-00136-1","pdf_url":"https://jmhg.springeropen.com/counter/pdf/10.1186/s43042-021-00136-1","source":{"id":"https://openalex.org/S3034796422","display_name":"Egyptian Journal of Medical Human Genetics","issn_l":"1110-8630","issn":["1110-8630","2090-2441"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jpps-1","jufo-1","poland-40","russia-white-list-4","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Egyptian Journal of Medical Human Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9922999739646912}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320329608","display_name":"Universit\u00e9 Hassan II de Casablanca","ror":"https://ror.org/001q4kn48"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3164440397.pdf","grobid_xml":"https://content.openalex.org/works/W3164440397.grobid-xml"},"referenced_works_count":37,"referenced_works":["https://openalex.org/W1154603765","https://openalex.org/W1501608538","https://openalex.org/W1534026166","https://openalex.org/W1544125998","https://openalex.org/W1967125495","https://openalex.org/W1969898698","https://openalex.org/W1977370347","https://openalex.org/W1994134406","https://openalex.org/W2012517517","https://openalex.org/W2018360771","https://openalex.org/W2022734169","https://openalex.org/W2040686597","https://openalex.org/W2043208986","https://openalex.org/W2056656436","https://openalex.org/W2068234941","https://openalex.org/W2073195845","https://openalex.org/W2075563634","https://openalex.org/W2078963047","https://openalex.org/W2082096210","https://openalex.org/W2099927493","https://openalex.org/W2116269788","https://openalex.org/W2118094114","https://openalex.org/W2128087375","https://openalex.org/W2129593538","https://openalex.org/W2129903406","https://openalex.org/W2131865507","https://openalex.org/W2157973978","https://openalex.org/W2243984430","https://openalex.org/W2317500083","https://openalex.org/W2335725710","https://openalex.org/W2339109737","https://openalex.org/W2577126958","https://openalex.org/W2605479038","https://openalex.org/W2765199691","https://openalex.org/W2902656015","https://openalex.org/W2955073917","https://openalex.org/W2990850057"],"related_works":["https://openalex.org/W2068234941","https://openalex.org/W2294794318","https://openalex.org/W7096749757","https://openalex.org/W2182197982","https://openalex.org/W2577126958","https://openalex.org/W2328965943","https://openalex.org/W2078963047","https://openalex.org/W2147308020","https://openalex.org/W4403982027","https://openalex.org/W2056172192"],"abstract_inverted_index":{"Abstract":[0],"Background":[1],"Tetralogy":[2],"of":[3,43,55,76,90,156,179,189,197,202,218,221,234,249,254,260],"Fallot":[4,56,77,157,190,203,222],"is":[5,159],"the":[6,41,69,111,125,135,146,174,225,241,246,258,268,272],"most":[7],"prevalent":[8],"cyanotic":[9],"congenital":[10],"heart":[11],"disease,":[12],"occurring":[13],"in":[14,50,80,119,122,134,153,168],"1/3":[15],"600":[16],"live":[17],"births.":[18],"This":[19,206],"disorder":[20],"comprises":[21],"ventricular":[22,26,33],"septal":[23,185],"defect,":[24],"right":[25,32],"outflow":[27],"obstruction,":[28],"over-riding":[29],"aorta,":[30],"and":[31,58,87,94,137,162,187,216,237,243],"hypertrophy.":[34],"The":[35,96,128,149],"present":[36],"study":[37,207],"aims":[38],"to":[39,59,139],"reveal":[40],"spectrum":[42],"Nk2":[44],"homeobox":[45],"5":[46],"(NKX2-5)":[47],"variants":[48],"identified":[49],"a":[51,141,177,194,209,230],"Moroccan":[52],"non-syndromic":[53,74],"tetralogy":[54,75,155,188,201,220,253],"cohort":[57],"compare":[60],"mutation":[61,116,151,181,199,214,236,251],"rate":[62,152,182,215],"with":[63,73,124,170,200,252],"different":[64,102,219],"studies":[65],"from":[66],"all":[67],"over":[68],"world.":[70,226],"Thirty-one":[71],"patients":[72],"were":[78,85,92,99,107],"recruited":[79],"this":[81],"cross-sectional":[82],"study.":[83],"DNAs":[84],"extracted,":[86],"coding":[88],"regions":[89],"NKX2.5":[91,150,213],"PCR-amplified":[93],"sequenced.":[95],"obtained":[97],"sequences":[98],"analyzed":[100],"using":[101,110],"bioinformatics":[103],"tools.":[104],"Statistical":[105],"comparisons":[106],"carried":[108],"out":[109],"R":[112],"software.":[113],"Results":[114],"R25C":[115,180,198,235,250],"was":[117,131,166],"found":[118],"two":[120],"patients,":[121],"association":[123,196,248],"E21E":[126,238],"variant.":[127],"latter":[129],"variant":[130,239],"frequently":[132],"observed":[133],"population":[136,158],"seems":[138],"have":[140],"potential":[142],"altering":[143],"effect":[144,233],"on":[145,240],"splicing":[147],"process.":[148],"our":[154,212],"around":[160,224],"6.4%,":[161],"no":[163],"significant":[164,247],"difference":[165],"noticed":[167],"comparison":[169,178],"previous":[171],"studies.":[172],"At":[173],"same":[175],"time,":[176],"between":[183,211],"atrial":[184],"defect":[186],"worldwide":[191],"populations":[192,223],"shows":[193],"particular":[195],"phenotype.":[204],"Conclusions":[205],"reveals":[208],"consistency":[210],"those":[217],"Our":[227],"findings":[228],"suggest":[229],"possible":[231],"combined":[232],"carriers":[242],"emphasize":[244],"particularly":[245],"Fallot,":[255],"which":[256],"highlights":[257],"importance":[259],"an":[261],"anticipative":[262],"screening":[263],"for":[264],"TOF":[265],"phenotype":[266],"among":[267],"carriers\u2019":[269],"offspring":[270],"at":[271],"perinatal":[273],"period.":[274]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":2}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2021-06-07T00:00:00"}