Varaico: Literature-Extracted Genetic Variants

Gene:TRPV4
Variant:p.G600E
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TRPV4

NM_021625.5:p.G600E

Associated Papers

The emerging role of TRPV4 in skeletal biology: Mechanotransduction, mutation, and therapeutic potential.

Lyu B et al.

Cell Calcium, 2026

The impact of TRPV4 pathogenic mutations on barrier integrity.

Sampaio G et al.

Human Molecular Genetics, 2025

In silico analysis of TRPM4 variants of unknown clinical significance.

Tarnovskaya SI et al.

Plos One, 2023

A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.

Zhang H et al.

Journal of Human Genetics, 2015

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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."