Varaico: Literature-Extracted Genetic Variants

Gene:CACNA2D4
Variant:p.L1068P
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CACNA2D4

NM_172364.5:p.L1068P

Associated Papers

Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.

Zeitz C et al.

Progress in Retinal and Eye Research, 2015

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

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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."