Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.W78*
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GJA8

NM_005267.5:p.W78*

Associated Papers

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

Fernández-Alcalde C et al.

Genes, 2021

Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.

Li W et al.

Frontiers in Cell and Developmental Biology, 2021

33816482 (PubMed )
Supplement: Data_Sheet_1.XLSX › Supplementary_Data_1

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.

Irum B et al.

Plos One, 2016

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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."