Varaico: Literature-Extracted Genetic Variants

Gene:GCGR
Variant:p.F320del1
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GCGR

NM_000160.5:p.F320del1

Associated Papers

Diabetes mellitus HNF4A-MODY in children from the Russian population: clinical and genetic features.

Sechko EA et al.

Frontiers in Endocrinology, 2025

Absence of PNET formation and normal longevity in a mouse model of Mahvash disease.

Xu Y et al.

Heliyon, 2024

Downregulation of the kidney glucagon receptor, essential for renal function and systemic homeostasis, contributes to chronic kidney disease.

Wang MY et al.

Cell Metabolism, 2024

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

Sipos B et al.

Endocrine-related Cancer, 2023

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

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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."