Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.P29L
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CAV3

NM_033337.3:p.P29L

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

Rippling muscle disease: variable phenotype in a family with five afflicted members.

Jacobi C et al.

Muscle & Nerve, 2010

Molecular and muscle pathology in a series of caveolinopathy patients.

Fulizio L et al.

Human Mutation, 2005

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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."