Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1F
Variant:p.E1575Splc
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CACNA1F

NM_005183.4:p.E1575Splc

Associated Papers

Cav1.4 dysfunction and congenital stationary night blindness type 2.

Koschak A et al.

Pflugers Archiv : European Journal of Physiology, 2021

Alternative splicing and retinal degeneration.

Liu MM et al.

Clinical Genetics, 2013

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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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."