Varaico: Literature-Extracted Genetic Variants

Gene:TRPV6
Variant:p.R454C
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TRPV6

NM_018646.6:p.R454C

Associated Papers

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

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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."