Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1D
Variant:p.G674D
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CACNA1D

NM_001128840.3:p.G674D

Associated Papers

What can naturally occurring mutations tell us about Ca(v)1.x channel function?

Stockner T et al.

Biochimica Et Biophysica Acta, 2013

Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels.

Striessnig J et al.

Pflugers Archiv : European Journal of Physiology, 2010

A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.

Boycott KM et al.

Human Genetics, 2001

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