Varaico: Literature-Extracted Genetic Variants

Gene:SLC24A1
Variant:p.F538fs
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SLC24A1

NM_004727.3:p.F538fs

Associated Papers

Inherited retinal degeneration in Malay and Indian populations of Singapore and Malaysia: a prospective multicentre study.

Sao Su S et al.

Ophthalmic Genetics, 2025

Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.

Neuillé M et al.

Clinical Genetics, 2016

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

The molecular basis of retinal dystrophies in pakistan.

Khan MI et al.

Genes, 2014

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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."