Varaico: Literature-Extracted Genetic Variants

Gene:TRPV6
Variant:p.R483W
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TRPV6

NM_018646.6:p.R483W

Associated Papers

TRPV6-related pancreatitis: natural history and the impact of the pancreas-specific deletion on pancreatitis in mice.

Masamune A et al.

Journal of Gastroenterology, 2025

A case of early-onset idiopathic chronic pancreatitis associated with a loss-of-function TRPV6 p.R483Q variant successfully treated by pancreatic duct stenting.

Goma M et al.

Clinical Journal of Gastroenterology, 2023

Calcium selective channel TRPV6: Structure, function, and implications in health and disease.

Khattar V et al.

Gene, 2022

Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update.

Wertheim-Tysarowska K et al.

Genes, 2021

Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism.

Suzuki Y et al.

The Journal of Physiological Sciences : Jps, 2020

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.

Suzuki Y et al.

American Journal of Human Genetics, 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."