Varaico: Literature-Extracted Genetic Variants

Gene:PSMD8
Variant:p.K304E
Back to variants list

PSMD8

NM_002812.5:p.K304E

Associated Papers

Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.

Tanaka K et al.

Human Mutation, 1992

Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.

Yokota I et al.

American Journal of Human Genetics, 1991

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."