Varaico: Literature-Extracted Genetic Variants

Gene:GNA11
Variant:p.T347A
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GNA11

NM_002067.5:p.T347A

Associated Papers

Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.

Katanaev VL et al.

Embo Molecular Medicine, 2025

Loss-of-function Thr347Ala Variant in the G Protein Subunit-Α11 Causes Familial Hypocalciuric Hypercalcemia 2.

Boisen IM et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

The calcium-sensing receptor: a comprehensive review on its role in calcium homeostasis and therapeutic implications.

Yuan M et al.

American Journal of Translational Research, 2025

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

Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Cowan RW et al.

Clinical and Translational Gastroenterology, 2021

34797250 (PubMed )
Supplement: ct9-12-e00431-s005.xlsx › SDC5
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