Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.Y88C
Back to variants list

REEP1

NM_001371279.1:p.Y88C

Associated Papers

Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

Beetz C et al.

American Journal of Human Genetics, 2012

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."