Varaico: Literature-Extracted Genetic Variants

Gene:GCGR
Variant:p.W83fs
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GCGR

NM_000160.5:p.W83fs

Associated Papers

Glucagon cell hyperplasia and neoplasia: a recently recognized endocrine receptor disease.

Sipos B et al.

Endocrine-related Cancer, 2023

Increased SLC38A4 Amino Acid Transporter Expression in Human Pancreatic α-Cells After Glucagon Receptor Inhibition.

Kim J et al.

Endocrinology, 2019

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

Glucagon cell hyperplasia and neoplasia with and without glucagon receptor mutations.

Sipos B et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

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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."