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[Identification of a novel c.2633_2634del CT variant of the ADAR gene in a patient with dyschromatosis symmetrica hereditaria].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2019

Zheng Lingyan, Yuan Ping, Deng Weiping

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of two unrelated patients with dyschromatosis symmetrica hereditaria. METHODS: Variant analysis of the ADAR gene was carried out by Sanger sequencing. RESULTS: Patient 1 was found to harbor a c.2633_2634delCT (p.Ser878fs) in exon 8 of the ADAR gene. The same variant was not found among 100 unrelated individuals. No pathogenic variant of the ADAR gene was found in patient...

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PMID: 31703134
DOI: 10.3760/cma.j.issn.1003-9406.2019.11.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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