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[Result of Sanger sequencing for newborn carriers of single heterozygous variants of GJB2 or SLC26A4 gene by genechip analysis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2020

He Jun, Na Yang, Liu Jiyang

Abstract excerpt

OBJECTIVE: To detect additional variants for newborn carriers of single heterozygous variants of the GJB2 or SLC26A4 gene by genechip analysis in Changsha area, and explore the variation spectrum of deafness-related genes in this region. METHODS: For 462 newborns carrying single heterozygous variants of the GJB2 or SLC26A4 gene, all exons of the genes were subjected to Sanger sequencing. The pathogenicity of the...

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PMID: 33179223
DOI: 10.3760/cma.j.cn511374-20200304-00126

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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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