Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.P965L
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ADAR

NM_001111.5:p.P965L

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

A pan-cancer atlas of somatic mutations in miRNA biogenesis genes.

Galka-Marciniak P et al.

Nucleic Acids Research, 2021

33406242 (PubMed )
Supplement: gkaa1223_supplemental_files.zip › GalkaMarciniak_Suppl_Table_S3.xlsx › Supplementare_TAble_S3

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

Wang P et al.

Molecular Genetics & Genomic Medicine, 2019

Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study.

Graziola F et al.

Frontiers in Genetics, 2019

Four novel and two recurrent mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria.

Wang XP et al.

Journal of Dermatological Science, 2010

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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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."