Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.E48_Q49delFs
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GJA8

NM_005267.5:p.E48_Q49delFs

Associated Papers

Broadening the Mutation Spectrum in GJA8 and CHMP4B: Novel Missense Variants and the Associated Phenotypes in Six Chinese Han Congenital Cataracts Families.

Wang X et al.

Frontiers in Medicine, 2021

Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.

Min HY et al.

Chinese Medical Journal, 2016

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."