Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.A311fs
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GJA1

NM_000165.5:p.A311fs

Associated Papers

Establishment and Comprehensive Characterization of a Novel Preclinical Platform of Metastatic Retinoblastoma for Therapeutic Developments.

Zugbi S et al.

Investigative Ophthalmology & Visual Science, 2023

38117242 (PubMed )
Supplement: iovs-64-15-27_s002.xlsx › Supplementary_Table_2

Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness.

Alías L et al.

Frontiers in Genetics, 2022

Atrial fibrillation-a complex polygenetic disease.

Andersen JH et al.

European Journal of Human Genetics : Ejhg, 2021

33279945 (PubMed )
Supplement: 41431_2020_784_MOESM3_ESM.xlsx › Sheet1
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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."