Varaico: Literature-Extracted Genetic Variants

Gene:GCGR
Variant:p.Q293Splc
Back to variants list

GCGR

NM_000160.5:p.Q293Splc

Associated Papers

The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine.

Li H et al.

Molecular Genetics and Metabolism Reports, 2018

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."