Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.K258*
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GJA1

NM_000165.5:p.K258*

Associated Papers

Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.

Vermeer MCSC et al.

International Journal of Molecular Sciences, 2022

Connexins in epidermal homeostasis and skin disease.

Scott CA et al.

Biochimica Et Biophysica Acta, 2012

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.

Paznekas WA et al.

Human Mutation, 2009

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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."