Varaico: Literature-Extracted Genetic Variants

Gene:TRPV5
Variant:p.V598M
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TRPV5

NM_019841.7:p.V598M

Associated Papers

Physiological functions and pharmacological targeting of transient receptor potential channels.

Chubanov V et al.

Pharmacological Reviews, 2025

Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria.

Guleray Lafci N et al.

European Journal of Human Genetics : Ejhg, 2024

A successful conclusion to the long search for TRPV5 pathogenic variants in monogenic hypercalciuria.

Gorvin CM

European Journal of Human Genetics : Ejhg, 2024

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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."