Varaico: Literature-Extracted Genetic Variants

Gene:ACAD8
Variant:p.Y122C
Back to variants list

ACAD8

NM_014384.3:p.Y122C

Associated Papers

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

Marti-Sanchez L et al.

Journal of Inherited Metabolic Disease, 2021

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."