Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.L855fs
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ADAR

NM_001111.5:p.L855fs

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

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

Two frameshift mutations of the double-stranded RNA-specific adenosine deaminase gene in Chinese pedigrees with dyschromatosis symmetrica hereditaria.

Liu Y et al.

The British Journal of Dermatology, 2006

Four novel mutations of ADAR1 in Chinese patients with dyschromatosis symmetrica hereditaria.

Hu W et al.

Indian Journal of Dermatology, Venereology and Leprology, 0

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