{"id":"https://openalex.org/W7225324741","doi":"https://doi.org/10.1007/s13353-026-01130-2","title":"RNA-seq-based allele-specific expression reveals candidate expressed-variant differences in DMDmdx rat muscle","display_name":"RNA-seq-based allele-specific expression reveals candidate expressed-variant differences in DMDmdx rat muscle","publication_year":2026,"publication_date":"2026-11-06","ids":{"openalex":"https://openalex.org/W7225324741","doi":"https://doi.org/10.1007/s13353-026-01130-2","pmid":"https://pubmed.ncbi.nlm.nih.gov/42989056"},"language":"en","primary_location":{"id":"doi:10.1007/s13353-026-01130-2","doi":"https://doi.org/10.1007/s13353-026-01130-2","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s13353-026-01130-2","pdf_url":"https://link.springer.com/content/pdf/10.1007/s13353-026-01130-2.pdf","source":{"id":"https://openalex.org/S152710239","display_name":"Journal of Applied Genetics","issn_l":"1234-1983","issn":["1234-1983","2190-3883"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","medline","norway-1","poland-140","russia-white-list-2"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["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":"Journal of Applied Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://link.springer.com/content/pdf/10.1007/s13353-026-01130-2.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5006895320","display_name":"Abdolvahab Ebrahimpour Gorji","orcid":"https://orcid.org/0000-0001-6282-9103","observed_orcids":["https://orcid.org/0000-0001-6282-9103"]},"institutions":[{"id":"https://openalex.org/I170230895","display_name":"Warsaw University of Life Sciences","ror":"https://ror.org/05srvzs48","country_code":"PL","type":"education","lineage":["https://openalex.org/I170230895"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Abdolvahab Ebrahimpour Gorji","raw_affiliation_strings":["Department of Physiological Sciences, Institute of Veterinary Medicine, Warsaw University of Life Sciences, Warsaw, 02-776, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiological Sciences, Institute of Veterinary Medicine, Warsaw University of Life Sciences, Warsaw, 02-776, Poland","institution_ids":["https://openalex.org/I170230895"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044557392","display_name":"Masoud Shirali","orcid":"https://orcid.org/0000-0002-5401-0541","observed_orcids":["https://orcid.org/0000-0002-5401-0541"]},"institutions":[{"id":"https://openalex.org/I126231945","display_name":"Queen's University Belfast","ror":"https://ror.org/00hswnk62","country_code":"GB","type":"education","lineage":["https://openalex.org/I126231945"]},{"id":"https://openalex.org/I4210155175","display_name":"Agri Food and Biosciences Institute","ror":"https://ror.org/05c5y5q11","country_code":"GB","type":"facility","lineage":["https://openalex.org/I4210155175"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Masoud Shirali","raw_affiliation_strings":["Agri-Food and Biosciences Institute, Belfast, BT9 5PX, UK","School of Biological Sciences, Queen's University Belfast, Belfast, BT9 5DL, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Agri-Food and Biosciences Institute, Belfast, BT9 5PX, UK","institution_ids":["https://openalex.org/I4210155175"]},{"raw_affiliation_string":"School of Biological Sciences, Queen's University Belfast, Belfast, BT9 5DL, UK","institution_ids":["https://openalex.org/I126231945"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084630333","display_name":"Caroline Le Guiner","orcid":"https://orcid.org/0000-0002-6904-2300","observed_orcids":["https://orcid.org/0000-0002-6904-2300"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I3019204325","display_name":"Centre Hospitalier Universitaire de Nantes","ror":"https://ror.org/05c1qsg97","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3019204325"]},{"id":"https://openalex.org/I4210090250","display_name":"Gene Therapy Laboratory","ror":"https://ror.org/008rwh029","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I3019204325","https://openalex.org/I4210090250","https://openalex.org/I4210100892","https://openalex.org/I4210105774","https://openalex.org/I97188460"]},{"id":"https://openalex.org/I4392021141","display_name":"Translational Research in Gene Therapy","ror":"https://ror.org/02tg88m31","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I4392021141","https://openalex.org/I97188460"]},{"id":"https://openalex.org/I97188460","display_name":"Nantes Universit\u00e9","ror":"https://ror.org/03gnr7b55","country_code":"FR","type":"education","lineage":["https://openalex.org/I97188460"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Caroline Le Guiner","raw_affiliation_strings":["Translational Gene Therapy Laboratory (TaRGeT), Nantes Universit\u00e9, CHU de Nantes, INSERM UMR 1089, Nantes, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Translational Gene Therapy Laboratory (TaRGeT), Nantes Universit\u00e9, CHU de Nantes, INSERM UMR 1089, Nantes, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I3019204325","https://openalex.org/I4210090250","https://openalex.org/I4392021141","https://openalex.org/I97188460"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058260689","display_name":"Zahra Roudbari","orcid":"https://orcid.org/0000-0002-3357-3126","observed_orcids":["https://orcid.org/0000-0002-3357-3126"]},"institutions":[{"id":"https://openalex.org/I1280764379","display_name":"University of Jiroft","ror":"https://ror.org/00mz6ad23","country_code":"IR","type":"education","lineage":["https://openalex.org/I1280764379"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Zahra Roudbari","raw_affiliation_strings":["Department of Animal Science, Faculty of Agriculture, University of Jiroft, Jiroft, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Animal Science, Faculty of Agriculture, University of Jiroft, Jiroft, Iran","institution_ids":["https://openalex.org/I1280764379"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5059395860","display_name":"Tomasz Sadkowski","orcid":"https://orcid.org/0000-0001-9175-7110","observed_orcids":["https://orcid.org/0000-0001-9175-7110"]},"institutions":[{"id":"https://openalex.org/I170230895","display_name":"Warsaw University of Life Sciences","ror":"https://ror.org/05srvzs48","country_code":"PL","type":"education","lineage":["https://openalex.org/I170230895"]}],"countries":["PL"],"is_corresponding":true,"raw_author_name":"Tomasz Sadkowski","raw_affiliation_strings":["Department of Physiological Sciences, Institute of Veterinary Medicine, Warsaw University of Life Sciences, Warsaw, 02-776, Poland. tomasz_sadkowski@sggw.edu.pl"],"raw_orcid":"https://orcid.org/0000-0001-9175-7110","affiliations":[{"raw_affiliation_string":"Department of Physiological Sciences, Institute of Veterinary Medicine, Warsaw University of Life Sciences, Warsaw, 02-776, Poland. tomasz_sadkowski@sggw.edu.pl","institution_ids":["https://openalex.org/I170230895"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":9,"corresponding_author_ids":["https://openalex.org/A5059395860"],"corresponding_institution_ids":["https://openalex.org/I170230895"],"apc_list":{"value":3790,"currency":"USD","value_usd":3790},"apc_paid":{"value":3790,"currency":"USD","value_usd":3790},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.9771000146865845,"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/T10441","display_name":"Muscle Physiology and Disorders","score":0.9771000146865845,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.009399999864399433,"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"}},{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.001500000013038516,"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/duchenne-muscular-dystrophy","display_name":"Duchenne muscular dystrophy","score":0.9950000047683716},{"id":"https://openalex.org/keywords/allele-specific-expression","display_name":"allele-specific expression","score":0.9850000143051147},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.9139999747276306},{"id":"https://openalex.org/keywords/dystrophin-deficiency","display_name":"dystrophin deficiency","score":0.7760000228881836},{"id":"https://openalex.org/keywords/modifier-genes","display_name":"genetic modifiers","score":0.7639999985694885},{"id":"https://openalex.org/keywords/disease-severity","display_name":"disease severity","score":0.6679999828338623},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.7680000066757202},{"id":"https://openalex.org/keywords/protein-stability","display_name":"protein stability","score":0.9190000295639038},{"id":"https://openalex.org/keywords/myh2","display_name":"MYH2","score":0.8640000224113464},{"id":"https://openalex.org/keywords/myh3","display_name":"MYH3","score":0.996999979019165},{"id":"https://openalex.org/keywords/titin","display_name":"titin","score":0.9900000095367432},{"id":"https://openalex.org/keywords/obscurin","display_name":"obscurin","score":0.9919999837875366},{"id":"https://openalex.org/keywords/aldolase-a","display_name":"aldolase A","score":0.9990000128746033},{"id":"https://openalex.org/keywords/muscle-contraction","display_name":"muscle contraction","score":0.6930000185966492},{"id":"https://openalex.org/keywords/cytoskeleton-organization","display_name":"cytoskeletal organization","score":0.9760000109672546},{"id":"https://openalex.org/keywords/immune-response","display_name":"immune response","score":0.8420000076293945},{"id":"https://openalex.org/keywords/rat-muscle","display_name":"rat muscle","score":0.32100000977516174}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.9172999858856201},{"id":"https://openalex.org/C2778943923","wikidata":"https://www.wikidata.org/wiki/Q1648484","display_name":"Duchenne muscular dystrophy","level":2,"score":0.7617999911308289},{"id":"https://openalex.org/C2780394045","wikidata":"https://www.wikidata.org/wiki/Q412285","display_name":"Dystrophin","level":3,"score":0.6535000205039978},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.6151999831199646},{"id":"https://openalex.org/C2775905019","wikidata":"https://www.wikidata.org/wiki/Q192572","display_name":"In silico","level":3,"score":0.5511999726295471},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5343999862670898},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.48249998688697815},{"id":"https://openalex.org/C2778750056","wikidata":"https://www.wikidata.org/wiki/Q24976962","display_name":"mdx mouse","level":4,"score":0.47780001163482666},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.4530999958515167},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.44339999556541443},{"id":"https://openalex.org/C2909765735","wikidata":"https://www.wikidata.org/wiki/Q4116663","display_name":"Muscle disorder","level":2,"score":0.4426000118255615},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.41659998893737793},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.37790000438690186},{"id":"https://openalex.org/C2779959927","wikidata":"https://www.wikidata.org/wiki/Q1048687","display_name":"Skeletal muscle","level":2,"score":0.3321000039577484},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.3264999985694885},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.30489999055862427},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.2994000017642975},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.2985000014305115},{"id":"https://openalex.org/C181709278","wikidata":"https://www.wikidata.org/wiki/Q18028020","display_name":"ITGA7","level":3,"score":0.2976999878883362},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.2842000126838684},{"id":"https://openalex.org/C174510640","wikidata":"https://www.wikidata.org/wiki/Q489618","display_name":"HEK 293 cells","level":3,"score":0.2770000100135803},{"id":"https://openalex.org/C142669718","wikidata":"https://www.wikidata.org/wiki/Q154626","display_name":"Cytoskeleton","level":3,"score":0.2757999897003174},{"id":"https://openalex.org/C2993400109","wikidata":"https://www.wikidata.org/wiki/Q329638","display_name":"Actin cytoskeleton","level":4,"score":0.27090001106262207},{"id":"https://openalex.org/C2778908642","wikidata":"https://www.wikidata.org/wiki/Q200779","display_name":"Genetic disorder","level":3,"score":0.26989999413490295},{"id":"https://openalex.org/C162317418","wikidata":"https://www.wikidata.org/wiki/Q252857","display_name":"Transcriptome","level":4,"score":0.2694999873638153},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.2689000070095062},{"id":"https://openalex.org/C14036430","wikidata":"https://www.wikidata.org/wiki/Q3736076","display_name":"Function (biology)","level":2,"score":0.2567000091075897},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.2533999979496002}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1007/s13353-026-01130-2","doi":"https://doi.org/10.1007/s13353-026-01130-2","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s13353-026-01130-2","pdf_url":"https://link.springer.com/content/pdf/10.1007/s13353-026-01130-2.pdf","source":{"id":"https://openalex.org/S152710239","display_name":"Journal of Applied Genetics","issn_l":"1234-1983","issn":["1234-1983","2190-3883"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","medline","norway-1","poland-140","russia-white-list-2"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["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":"Journal of Applied Genetics","raw_type":"journal-article"},{"id":"pmid:42989056","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42989056","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":"Journal of applied genetics","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1007/s13353-026-01130-2","doi":"https://doi.org/10.1007/s13353-026-01130-2","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s13353-026-01130-2","pdf_url":"https://link.springer.com/content/pdf/10.1007/s13353-026-01130-2.pdf","source":{"id":"https://openalex.org/S152710239","display_name":"Journal of Applied Genetics","issn_l":"1234-1983","issn":["1234-1983","2190-3883"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","medline","norway-1","poland-140","russia-white-list-2"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["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":"Journal of Applied Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9074000120162964,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320322511","display_name":"Narodowe Centrum Nauki","ror":"https://ror.org/03ha2q922"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7225324741.pdf","grobid_xml":"https://content.openalex.org/works/W7225324741.grobid-xml"},"referenced_works_count":36,"referenced_works":["https://openalex.org/W1977378217","https://openalex.org/W2003414258","https://openalex.org/W2019094344","https://openalex.org/W2065098729","https://openalex.org/W2077583368","https://openalex.org/W2077789687","https://openalex.org/W2103545796","https://openalex.org/W2104816742","https://openalex.org/W2109370817","https://openalex.org/W2136170412","https://openalex.org/W2136513422","https://openalex.org/W2143238378","https://openalex.org/W2157710407","https://openalex.org/W2167989424","https://openalex.org/W2215775369","https://openalex.org/W2465610369","https://openalex.org/W2551948663","https://openalex.org/W2627019530","https://openalex.org/W2750656683","https://openalex.org/W2884037444","https://openalex.org/W2898970475","https://openalex.org/W2904211817","https://openalex.org/W2909445224","https://openalex.org/W2911312069","https://openalex.org/W2944208117","https://openalex.org/W2958101982","https://openalex.org/W2969770826","https://openalex.org/W2998661164","https://openalex.org/W3009932145","https://openalex.org/W3012393243","https://openalex.org/W3018221491","https://openalex.org/W3158958714","https://openalex.org/W3206177908","https://openalex.org/W4385264229","https://openalex.org/W4385330551","https://openalex.org/W4392348927"],"related_works":["https://openalex.org/W2091695643","https://openalex.org/W1592115589","https://openalex.org/W4387310351","https://openalex.org/W7043746385","https://openalex.org/W2754019815","https://openalex.org/W4405349355","https://openalex.org/W4413108024","https://openalex.org/W7127304334","https://openalex.org/W4400723728","https://openalex.org/W4385852290"],"abstract_inverted_index":{"Abstract":[0],"Duchenne":[1],"muscular":[2],"dystrophy":[3],"(DMD)":[4],"is":[5,27],"a":[6,76],"severe":[7],"X-linked":[8],"disorder":[9],"characterized":[10],"by":[11],"progressive":[12],"muscle":[13,147,169],"degeneration":[14],"due":[15],"to":[16,90,146],"dystrophin":[17],"deficiency.":[18],"While":[19],"the":[20,24,34,66,160],"primary":[21],"variant":[22],"in":[23,56,84,110,122,159,184],"DMD":[25,57,85,165],"gene":[26],"well-characterized,":[28],"disease":[29],"severity":[30],"often":[31],"varies,":[32],"suggesting":[33],"involvement":[35],"of":[36,79,164,180],"additional":[37],"genetic":[38],"modifiers.":[39],"In":[40],"this":[41,71],"study,":[42],"we":[43,74],"performed":[44],"high-resolution":[45],"allele-specific":[46],"expression":[47],"(ASE)":[48],"and":[49,59,109,131,151,167,170,177],"single-nucleotide":[50],"polymorphism":[51],"(SNP)":[52],"analyses":[53,114,142],"using":[54],"RNA-Seq":[55],"mdx":[58,86,166],"wild-type":[60],"(WT)":[61],"Sprague-Dawley":[62],"rats":[63,87],"derived":[64],"from":[65],"same":[67],"breeding":[68],"lineage.":[69],"Despite":[70],"shared":[72],"lineage,":[73],"detected":[75],"higher":[77],"number":[78],"significant":[80],"RNA-seq-supported":[81,161],"ASE-associated":[82],"SNPs":[83],"(3,440)":[88],"compared":[89],"WT":[91,168],"controls":[92],"(1,883).":[93],"However,":[94],"these":[95,155],"findings":[96,156],"should":[97],"be":[98],"interpreted":[99],"as":[100],"candidate":[101,172],"allelic":[102],"imbalances":[103],"requiring":[104],"orthogonal":[105],"validation.":[106],"Functional":[107,140],"annotation":[108],"silico":[111],"protein":[112,136],"stability":[113],"predicted":[115],"that":[116],"several":[117],"missense":[118],"variants,":[119],"including":[120],"variants":[121],"Myh2":[123],",":[124,126,128,130,133],"Myh3":[125],"Ttn":[127],"Obscn":[129],"Aldoa":[132],"may":[134],"affect":[135],"function":[137],"or":[138],"stability.":[139],"enrichment":[141],"identified":[143],"pathways":[144],"related":[145],"contraction,":[148],"cytoskeletal":[149],"organization,":[150],"immune":[152],"responses.":[153],"Together,":[154],"indicate":[157],"differences":[158],"ASE":[162],"profiles":[163],"provide":[171],"loci":[173],"for":[174],"independent":[175],"validation":[176],"further":[178],"investigation":[179],"potential":[181],"disease-modifying":[182],"mechanisms":[183],"DMD.":[185]},"counts_by_year":[],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2026-11-06T00:00:00"}
