Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.T64P
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CAV3

NM_033337.3:p.T64P

Associated Papers

Annexins and Membrane Repair Dysfunctions in Muscular Dystrophies.

Croissant C et al.

International Journal of Molecular Sciences, 2021

Molecular and muscle pathology in a series of caveolinopathy patients.

Fulizio L et al.

Human Mutation, 2005

Phenotypic variability associated with Arg26Gln mutation in caveolin3.

Fee DB et al.

Muscle & Nerve, 2004

Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease.

Sotgia F et al.

American Journal of Physiology. Cell Physiology, 2003

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.

Matsuda C et al.

Human Molecular Genetics, 2001

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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."