Varaico: Literature-Extracted Genetic Variants

Gene:TRPV6
Variant:p.A18S
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TRPV6

NM_018646.6:p.A18S

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

The Coexistence of TRPV6 Variants With Other Pancreatitis-Associated Genes Affects Pediatric-Onset Pancreatitis.

Hirai S et al.

Journal of Pediatric Gastroenterology and Nutrition, 2023

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

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

Zou WB et al.

Human Mutation, 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."