Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1F
Variant:p.R519W
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CACNA1F

NM_005183.4:p.R519W

Associated Papers

A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.

Mahmood U et al.

Genes, 2021

Establishment and rapid detection of a heterozygous missense mutation in the CACNA1F gene by ARMS technique with double-base mismatched primers.

Yang WC et al.

Genetics and Molecular Research : Gmr, 2015

Identification of a novel heterozygous missense mutation in the CACNA1F gene in a chinese family with retinitis pigmentosa by next generation sequencing.

Zhou Q et al.

Biomed Research International, 2015

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