Varaico: Literature-Extracted Genetic Variants

Gene:GNA11
Variant:p.Y101H
Back to variants list

GNA11

NM_002067.5:p.Y101H

Associated Papers

A novel homozygous c.301T > C, p.Y101H variant in the GNA11 gene is implicated in familial hypocalciuric hypercalcemia type 2 in a proband with the heterozygous variant present in mother and father - A case report.

Koca SB et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2025

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."