Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1C
Variant:p.G406A
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CACNA1C

NM_000719.7:p.G406A

Associated Papers

Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy.

Bozarth X et al.

American Journal of Medical Genetics. Part A, 2018

Introduction into Ca(v)2.1 of the homologous mutation of Ca(v)1.2 causing the Timothy syndrome questions the role of V421 in the phenotypic definition of P-type Ca(2+) channel.

Cens T et al.

Pflugers Archiv : European Journal of Physiology, 2008

The natural history of fetal long QT syndrome.

Cuneo BF et al.

Journal of Electrocardiology, 0

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