Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.P105L
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CAV3

NM_033337.3:p.P105L

Associated Papers

Caveolin and NOS in the Development of Muscular Dystrophy.

Nakashima M et al.

International Journal of Molecular Sciences, 2024

Genetics and Autoimmunity: Two Sides of the Same Coin or an Epiphenomenon?

Chatterjee R et al.

Mediterranean Journal of Rheumatology, 2022

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

Caveolinopathies: from the biology of caveolin-3 to human diseases.

Gazzerro E et al.

European Journal of Human Genetics : Ejhg, 2010

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

Jacobi C et al.

Muscle & Nerve, 2010

Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C.

Filosto M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2009

Molecular and muscle pathology in a series of caveolinopathy patients.

Fulizio L et al.

Human Mutation, 2005

Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.

Figarella-Branger D et al.

Neurology, 2003

Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency.

Minetti C et al.

The American Journal of Pathology, 2002

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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."