Varaico: Literature-Extracted Genetic Variants

Gene:VPS50
Variant:p.R30Q
Back to variants list

VPS50

NM_017667.4:p.R30Q

Associated Papers

Homozygous Mutation in Synaptic Vesicle Glycoprotein 2A Gene Results in Intractable Epilepsy, Involuntary Movements, Microcephaly, and Developmental and Growth Retardation.

Serajee FJ et al.

Pediatric Neurology, 2015

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."