Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.R91delFs
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ADAR

NM_001111.5:p.R91delFs

Associated Papers

A Novel Mutation of the ADAR1 Gene in a Chinese Family with Dyschromatosis Symmetrica Hereditaria and Literature Review.

Ge H et al.

Clinical, Cosmetic and Investigational Dermatology, 2024

Clinical Interpretation of Sequence Variants.

Zhang J et al.

Current Protocols in Human Genetics, 2020

Mendelian disease caused by variants affecting recognition of Z-DNA and Z-RNA by the Zα domain of the double-stranded RNA editing enzyme ADAR.

Herbert A

European Journal of Human Genetics : Ejhg, 2020

Seven novel mutations of ADAR in multi-ethnic pedigrees with dyschromatosis symmetrica hereditaria in China.

Wang P et al.

Molecular Genetics & Genomic Medicine, 2019

The adenosine deaminase acting on RNA 1 p150 isoform is involved in the pathogenesis of dyschromatosis symmetrica hereditaria.

Zhang JY et al.

The British Journal of Dermatology, 2013

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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."