Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.C893*
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ADAR

NM_001111.5:p.C893*

Associated Papers

High-throughput mutagenesis reveals unique structural features of human ADAR1.

Park S et al.

Nature Communications, 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

Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria.

Kobayashi T et al.

Nagoya Journal of Medical Science, 2018

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

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

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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."