Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.L1057fs
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ADAR

NM_001111.5:p.L1057fs

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

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

Mutation analyses of patients with dyschromatosis symmetrica hereditaria: five novel mutations of the ADAR1 gene.

Murata I et al.

Journal of Dermatological Science, 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

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

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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."