Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.P189A
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GJA8

NM_005267.5:p.P189A

Associated Papers

Pathogenic genetic variants identified in Australian families with paediatric cataract.

Jones JL et al.

Bmj Open Ophthalmology, 2022

Molecular diagnosis of autosomal dominant congenital cataract in two families from North India reveals a novel and a known variant in GJA8 and GJA3.

Vanita V et al.

Frontiers in Pediatrics, 2022

Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families.

Fernández-Alcalde C et al.

Genes, 2021

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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."