Varaico: Literature-Extracted Genetic Variants

Gene:TRPV6
Variant:p.R345H
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TRPV6

NM_018646.6:p.R345H

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

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

Khattar V et al.

Gene, 2022

Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis.

Hamada S et al.

Human Mutation, 2022

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

Wertheim-Tysarowska K et al.

Genes, 2021

TRPV6 variants confer susceptibility to chronic pancreatitis in the Chinese population.

Zou WB et al.

Human Mutation, 2020

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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."