Varaico: Literature-Extracted Genetic Variants

Gene:MUC5B
Variant:p.G4185R
Back to variants list

MUC5B

NM_002458.3:p.G4185R

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."