Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.P29T
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CAV3

NM_033337.3:p.P29T

Associated Papers

Clinical Phenotype Spectrum in Two Large Chinese Families With Rippling Muscle Disease Caused by CAV-3 c.80G>A.

Shen Y et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025

The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote.

Hedley PL et al.

Circulation. Cardiovascular Genetics, 2013

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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."