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Article

[The genotype-phenotype correlation analysis and genetic counseling of hearing loss patients with novel KCNQ4 mutations].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Jan 2023

Zhang Xiaolong, Wang Hongyang, Li Jin, Li Danyang, Wu Kaili, Wu Xiaonan, Wang Qiuju

Abstract excerpt

Objective:To provide accurate genetic counseling, the genotype-phenotype correlation of the patients with KCNQ4mutations was analyzed. Methods:Two hearing loss families, 1807956（a five-generation family with 34 members） and 1707806（a three-generation family with 12 members） were recruited. The candidate variants were detected by next generation sequencing technology. Sanger sequencing was performed to verify the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 36597364
DOI: 10.13201/j.issn.2096-7993.2023.01.005
PMCID: PMC10128352

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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