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Article

Targeted next-generation sequencing and parental genotyping in sporadic Chinese Han deaf patients.

Clinical genetics - 1 Apr 2018

He L, Pang X, Liu H, Chai Y, Wu H, Yang T

Abstract excerpt

The interpretation of the targeted next-generation sequencing (NGS) results can be challenging for variants identified in the sporadic deaf patients. In this study, we performed targeted NGS of 143 deafness-associated genes in 44 sporadic deaf patients and use parental genotyping to test whether the candidate pathogenic variants complied with recessive or de novo pattern. Of 29 recessive candidate variants with...

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PMID: 29178603
DOI: 10.1111/cge.13182

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OTOA

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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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