Varaico: Literature-Extracted Genetic Variants

Gene:CNGA1
Variant:p.W433*
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CNGA1

NM_001379270.1:p.W433*

Associated Papers

Mutations in retinal cyclic nucleotide-gated channels identified in familial cases of inherited retinal dystrophies from Pakistan.

Akhtar Z et al.

Molecular Vision, 2025

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.

Munir A et al.

Bmc Ophthalmology, 2024

38317096 (PubMed )
Supplement: 12886_2024_3319_MOESM2_ESM.xlsx › Supplementary_Table_S2

Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4.

Rehman AU et al.

Genes, 2019

Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

Maria M et al.

Plos One, 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."