Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.S61R
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CAV3

NM_033337.3:p.S61R

Associated Papers

Familial Hyperckemia and Calf Hypertrophy Secondary to a Caveolin-3 Mutation.

Otero-Loperena E et al.

American Journal of Physical Medicine & Rehabilitation, 2021

CAV3 gene sequence variations: National Genome Database and clinics.

Stavusis J et al.

Acta Neurologica Scandinavica, 2015

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

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."