Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1F
Variant:p.F742C
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CACNA1F

NM_005183.4:p.F742C

Associated Papers

Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism.

Ehrenberg M et al.

Ophthalmic Genetics, 2021

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

Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W.

Peloquin JB et al.

Neuroscience, 2007

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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."