Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.R474*
Back to variants list

ADAR

NM_001111.5:p.R474*

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

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

Kobayashi T et al.

Nagoya Journal of Medical Science, 2018

Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene.

Zhang G et al.

Bmc Medical Genetics, 2016

Mutations in the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria.

Zhang GL et al.

Genetics and Molecular Research : Gmr, 2013

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

Identification of two novel mutations in Chinese patients with Dyschromatosis symmetrica hereditaria.

Li M et al.

Archives of Dermatological Research, 2005

The double-RNA-specific adenosine deaminase (DSRAD) gene in dyschromatosis symmetrica hereditaria patients: two novel mutations and one previously described.

Sun XK et al.

The British Journal of Dermatology, 2005

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

[DSRAD gene mutations in three families with dyschromatosis symmetrica hereditaria].

Yang Y et al.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2004

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

Novel mutations of the RNA-specific adenosine deaminase gene (DSRAD) in Chinese families with dyschromatosis symmetrica hereditaria.

Liu Q et al.

The Journal of Investigative Dermatology, 2004

Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria.

Miyamura Y et al.

American Journal of Human Genetics, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."