Characterization of Variants of Uncertain Significance in ACADVL Gene From a Very–Long‐Chain Acyl‐CoA Dehydrogenase Deficiency Patient

ABSTRACT Background Very–long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD) is a rare disorder of long‐chain mitochondrial fatty acid oxidation (FAO) caused by biallelic mutations in the acyl‐CoA dehydrogenase very–long‐chain (ACADVL) gene with autosomal recessive (AR) inheritance. Currently, the...

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Autores principales:	Qin Wang, Jingxin Yang, Yong Xu, Xingping Li, Nan Jiang, Jiansheng Xie
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Wiley 2025-07-01
Colección:	Molecular Genetics & Genomic Medicine
Materias:	ACADVL mini‐gene splicing experiment synonymous variant variants classification VUS
Acceso en línea:	https://doi.org/10.1002/mgg3.70120
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