Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.D431G
Back to variants list

ACADVL

NM_000018.4:p.D431G

Associated Papers

Four novel variants identified in the ACADVL gene causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese families.

Li L et al.

Frontiers in Genetics, 2024

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.

Zhang R et al.

Scientific Reports, 2021

A Novel Missense Mutation in Very Long-chain Acyl-CoA Dehydrogenase Deficiency.

Bu Q et al.

Indian Pediatrics, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."