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

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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Bibliographic Details
Main Authors: Qin Wang, Jingxin Yang, Yong Xu, Xingping Li, Nan Jiang, Jiansheng Xie
Format: Article
Language:English
Published: Wiley 2025-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
ACADVL
mini‐gene splicing experiment
synonymous variant
variants classification
VUS
Online Access:https://doi.org/10.1002/mgg3.70120
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