Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.H216fs
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ADAR

NM_001111.5:p.H216fs

Associated Papers

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

Wang P et al.

Molecular Genetics & Genomic Medicine, 2019

Dyschromatosis symmetrica hereditaria by ADAR1 mutations and viral encephalitis: a hidden link?

Kono M et al.

International Journal of Dermatology, 2013

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

Six novel mutations of the ADAR1 gene in patients with dyschromatosis symmetrica hereditaria: histological observation and comparison of genotypes and clinical phenotypes.

Kondo T et al.

The Journal of Dermatology, 2008

Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria.

Suzuki N et al.

The Journal of Investigative Dermatology, 2007

Five novel mutations of RNA-specific adenosine deaminase gene with dyschromatosis symmetrica hereditaria.

Hou Y et al.

Acta Dermato-venereologica, 2007

Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria.

Liu Q et al.

The British Journal of Dermatology, 2006

Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis.

Suzuki N et al.

The Journal of Investigative Dermatology, 2005

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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."