Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.C966F
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ADAR

NM_001111.5:p.C966F

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

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

Wang P et al.

Molecular Genetics & Genomic Medicine, 2019

Double-stranded RNA-specific adenosine deaminase (DSRAD) gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH).

Dong Y et al.

International Journal of Dermatology, 2011

A missense mutation c.G2747A (p.R916Q) of ADAR1 gene in dyschromatosis symmetrica hereditaria is not a novel mutation.

Hayashi M et al.

Archives of Dermatological Research, 2010

Mutational spectrum of the ADAR1 gene in dyschromatosis symmetrica hereditaria.

Li M et al.

Archives of Dermatological Research, 2010

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

Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH).

Zhang XJ et al.

Human Mutation, 2004

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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."