Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.V14I
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CAV3

NM_033337.3:p.V14I

Associated Papers

Human papillomavirus integration perspective in small cell cervical carcinoma.

Wang X et al.

Nature Communications, 2022

36216793 (PubMed )
Supplement: 41467_2022_33359_MOESM21_ESM.xlsx › Supplementary_Data18

Accurate interpretation of genetic variants in sudden unexpected death in infancy by trio-targeted gene-sequencing panel analysis.

Shingu K et al.

Scientific Reports, 2021

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.

Scalco RS et al.

Neuromuscular Disorders : Nmd, 2016

Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.

Izumi R et al.

Neurology. Genetics, 2015

Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

Lopes LR et al.

Heart (british Cardiac Society), 2015

25351510 (PubMed )
Supplement: heartjnl-2014-306387-s2.pdf

Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.

Cronk LB et al.

Heart Rhythm, 2007

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