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Article

ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.

Scientific reports - 28 Nov 2017

Han Kyu-Hee, Oh Doo-Yi, Lee Seungmin, Lee Chung, Han Jin Hee, Kim Min Young, Park Hye-Rim, Park Moo Kyun, Kim Nayoung K D, Lee Jaekwang, Yi Eunyoung, Kim Jong-Min, Kim Jeong-Whun, Chae Jong-Hee, Oh Seung Ha, Park Woong-Yang, Choi Byung Yoon

Abstract excerpt

The etiologies and prevalence of sporadic, postlingual-onset, progressive auditory neuropathy spectrum disorder (ANSD) have rarely been documented. Thus, we aimed to evaluate the prevalence and molecular etiologies of these cases. Three out of 106 sporadic progressive hearing losses turned out to manifest ANSD. Through whole exome sequencing and subsequent bioinformatics analysis, two out of the three were found...

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Identifiers

PMID: 29184165
DOI: 10.1038/s41598-017-16676-9
PMCID: PMC5705773

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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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