Varaico: Literature-Extracted Genetic Variants

Gene:TRPV6
Variant:p.G428R
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TRPV6

NM_018646.6:p.G428R

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

The odyssey of the TR(i)P journey to the cellular membrane.

Rivera B et al.

Frontiers in Cell and Developmental Biology, 2024

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

Khattar V et al.

Gene, 2022

Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism.

Suzuki Y et al.

The Journal of Physiological Sciences : Jps, 2020

TRPV6 Gene Mutation in a Dizygous Twin With Transient Neonatal Hyperparathyroidism.

Yamashita S et al.

Journal of the Endocrine Society, 2019

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."