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Article

Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing.

Gene - 5 Sept 2017

Ryu Nari, Lee Seokwon, Park Hong-Joon, Lee Byeonghyeon, Kwon Tae-Jun, Bok Jinwoong, Park Chan Ik, Lee Kyu-Yup, Baek Jeong-In, Kim Un-Kyung

Abstract excerpt

Hereditary hearing loss (HHL) is a common genetically heterogeneous disorder, which follows Mendelian inheritance in humans. Because of this heterogeneity, the identification of the causative gene of HHL by linkage analysis or Sanger sequencing have shown economic and temporal limitations. With recent advances in next-generation sequencing (NGS) techniques, rapid identification of a causative gene via massively...

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PMID: 28647561
DOI: 10.1016/j.gene.2017.06.040

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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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