Varaico: Literature-Extracted Genetic Variants

Gene:KLK9
Variant:p.R30C
Back to variants list

KLK9

NM_012315.2:p.R30C

Associated Papers

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

Gerber S et al.

American Journal of Human Genetics, 2016

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."