Varaico: Literature-Extracted Genetic Variants

Gene:TRPV4
Variant:p.R594S
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TRPV4

NM_021625.5:p.R594S

Associated Papers

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

Lyu B et al.

Cell Calcium, 2026

Long-term follow-up of metatropic dysplasia caused by novel mutations in the TRPV4 gene: Case report and literature review.

Liu Y et al.

Medicine, 2025

Roles for TRPV4 in disease: A discussion of possible mechanisms.

Hernández-Vega AM et al.

Cell Calcium, 2024

The S4---S5 linker - gearbox of TRP channel gating.

Hofmann L et al.

Cell Calcium, 2017

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

Fiorillo C et al.

Orphanet Journal of Rare Diseases, 2016

TRPV4-associated skeletal dysplasias.

Nishimura G et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.

Andreucci E et al.

Orphanet Journal of Rare Diseases, 2011

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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."