Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

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Title:	Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets
Authors :	Weisburd, Ben; ...; Perić, Stojan Z. ; ...; (broj koautora 39)
Issue Date:	2025
Publication:	Genetics in medicine
ISSN:	1098-3600 Genetics in Medicine Search Idenfier
Publisher:	[New York] : Elsevier
Type:	Article
Collation:	vol. 27 br. 4 str. 101336-101336
DOI:	10.1016/j.gim.2024.101336
WoS-ID:	001444505200001
Scopus-ID:	2-s2.0-85219564141
PMID:	39670433
URI:	https://enauka.gov.rs/handle/123456789/974867
URL:	https://www.sciencedirect.com/science/article/abs/pii/S1098360024002703?via%3Dihub
Project:	European Commission [950-232279] Canada Research Coordinating Com-mittee New Frontiers in Research Fund [101080249] Government of Canada, Canada First Research Excellence Fund (CFREF) [NFRFG-2022-00033] Canadian Institute of Health Research (CIHR) [CFREF-2022-00007] Wellcome Discovery Award [202210MFE-491707-404816] Medical Research Council (UK) [226653/Z/22/Z] Ataxia UK [MR/V009346/1] Muscular Dystrophy UK LifeArc Centre to Treat Mitochondrial Diseases (LAC-TreatMito) UKRI/Hori-zon Europe MSCA Doctoral Network Programme [101120256-MMM] Medical Research Council (MRC) National Institute for Health and Care Research (NIHR) Cambridge Biomedical Research Centre [MR/S005021/1] Sanofi Genzyme [BRC-1215-20014] Ultragenyx, LGMD2I Research Fund LGMD2D Foundation Kurt+Peter Foundation
Metadata source:	(Preuzeto iz Nasi u WoS)
M-category:	21aM21a

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