Varaico: Literature-Extracted Genetic Variants

Gene:TRPV4
Variant:p.T593I
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TRPV4

NM_021625.5:p.T593I

Associated Papers

Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.

Güneş N et al.

Pediatric Radiology, 2025

Autosomal dominant brachyolmia: transient metaphyseal striations.

Lim YJ et al.

Skeletal Radiology, 2017

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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."