Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.R365Q
Back to variants list

PRPF31

NM_015629.4:p.R365Q

Associated Papers

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

Simpson MA et al.

American Journal of Human Genetics, 2007

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."