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[Analysis of genetic variation for a child affected with congenital insensitivity to pain with anhidrosis and albinism by whole genome sequencing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2021

Jiang Chaoyue, Tang Shaohua, Li Huanzheng, Xu Xueqin, Ding Chunming

Abstract excerpt

OBJECTIVE: To explore the genetic variation of a Chinese family affected with congenital insensitivity to pain with anhidrosis and albinism. METHODS: Whole exome sequencing (WES) was carried out to screen potential variants within genomic DNA extracted from the proband and his parents. Whole genome sequencing (WGS) was applied when variants were not found completely. Suspected variants were validated by Sanger...

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PMID: 33974259
DOI: 10.3760/cma.j.cn511374-20200521-00369

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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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