Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.W25R
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GJA8

NM_005267.5:p.W25R

Associated Papers

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.

Blue EE et al.

Rare (amsterdam, Netherlands), 2024

A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract.

Guo R et al.

Bmc Ophthalmology, 2022

High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.

Javadiyan S et al.

G3 (bethesda, Md.), 2017

Identification of a Missense Mutation in GJA8 Gene in an Iranian Family with Autosomal Dominant Congenital Cataract.

Asghari M et al.

Journal of Current Ophthalmology, 0

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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."