Varaico: Literature-Extracted Genetic Variants

Gene:TRPV4
Variant:p.R232S
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TRPV4

NM_021625.5:p.R232S

Associated Papers

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

Hernández-Vega AM et al.

Cell Calcium, 2024

A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review.

Chen H et al.

Bmc Neurology, 2023

Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy.

Sullivan JM et al.

Neurology. Genetics, 2015

[Case of muscular atrophy in scapuloperoneal syndrome].

Nagatani M et al.

Naika. Internal Medicine, 1967

[CASE OF CHARCOT-MARIE MUSCULAR ATROPHY IN A FAMILY FROM VALAIS].

LORENZ J

Journal De Genetique Humaine, 1964

Scapuloperoneal muscular atrophy: Davidenkow's syndrome. Family report.

Milanov I et al.

Electromyography and Clinical Neurophysiology, 0

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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."