Varaico: Literature-Extracted Genetic Variants

Gene:TRPV6
Variant:p.L299Q
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TRPV6

NM_018646.6:p.L299Q

Associated Papers

TRPV6, a new entrant as a susceptibility gene in chronic pancreatitis: evidence from a systematic review and meta-analysis.

Shah IA et al.

Bmc Gastroenterology, 2026

Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene.

Rygiel AM et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2022

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

Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic Pancreatitis.

Masamune A et al.

Gastroenterology, 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."