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Article

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

Molecular vision - 1 Jan 2025

Akhtar Zainab, Afshan Kiran, Li Yumei, Altaf Sumaira, Asghar Aleesha, Sughra Ume, Khan Wajid Ali, Kaul Haiba, Chen Rui, Firasat Sabika

Abstract excerpt

Purpose: Cyclic nucleotide-gated (CNG) channels are ligand-gated ion channels that transduce light signals into electrical signals in the retinal photoreceptors. Pathogenic variants in CNG channel genes are reported to cause inherited retinal dystrophies (IRDs). The current study used targeted panel sequencing to describe the mutational spectrum of CNG channel genes in familial cases of IRDs from eight...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41306486
PMCID: PMC12645064

Genes

CNGA3
CNGA1
CNGB3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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