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Article

[Application of next generation sequencing in congenital sensorineural deafness].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 5 Jun 2018

Xu B, Chen Y, Jiang A, Chen C, Wang K, Zheng J, Fu Y

Abstract excerpt

Objective:The next-generation sequencing technology (NGS) was used to perform genetic testing on children diagnosed with sensorineural hearing loss in outpatient clinics.The information on the status and inheritance of disease causing genes in deafness was analyzed to provide a theoretical basis for genetic counseling, prenatal diagnosis, and birth defects prevention.Method:Ninety-four cases of sensorineural...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29921047
DOI: 10.13201/j.issn.1001-1781.2018.11.003

Genes

GJB2
KCNQ1
MITF
STRC

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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