Varaico: Literature-Extracted Genetic Variants

Gene:TRPV4
Variant:p.Q239H
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TRPV4

NM_021625.5:p.Q239H

Associated Papers

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

Lyu B et al.

Cell Calcium, 2026

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

Hernández-Vega AM et al.

Cell Calcium, 2024

TRPV4-associated skeletal dysplasias.

Nishimura G et al.

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

Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel.

Inada H et al.

Biochemistry, 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."