Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.F194Y
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GJB2

NM_004004.6:p.F194Y

Associated Papers

Genotype-Phenotype Correlations, Mortality, and Clinical Insights in Keratitis-Ichthyosis-Deafness Syndrome: A Comprehensive Review and Case Report.

Patrón-Romero L et al.

American Journal of Medical Genetics. Part A, 2025

KID syndrome in a Malaysian child with identification of novel heterozygous missense mutation GJB2 c.581T>A(p. 194Phe>Tyr).

Tang MM et al.

International Journal of Dermatology, 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."