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Article

[Mutation analysis of seven patients with Waardenburg syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2016

Hao Ziqi, Zhou Yongan, Li Pengli, Zhang Quanbin, Li Jiao, Wang Pengfei, Li Xiangshao, Feng Yong

Abstract excerpt

OBJECTIVE: To perform genetic analysis for 7 patients with Waardenburg syndrome. METHODS: Potential mutation of MITF, PAX3, SOX10 and SNAI2 genes was screened by polymerase chain reaction and direct sequencing. Functions of non-synonymous polymorphisms were predicted with PolyPhen2 software. RESULTS: Seven mutations, including c.649-651delAGA (p.R217del), c.72delG (p.G24fs), c.185T>C (p.M62T), c.118C>T (p.Q40X),...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27264810
DOI: 10.3760/cma.j.issn.1003-9406.2016.03.007

Genes

PAX3
SOX10
MITF
SNAI2

Variants

Provenance

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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