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Article

Predicting the Impact of OTOF Gene Missense Variants on Auditory Neuropathy Spectrum Disorder.

International journal of molecular sciences - 7 Dec 2023

Dmitriev Dmitry A, Shilov Boris V, Polunin Michail M, Zadorozhny Anton D, Lagunin Alexey A

Abstract excerpt

Auditory neuropathy spectrum disorder (ANSD) associated with mutations of the OTOF gene is one of the common types of sensorineural hearing loss of a hereditary nature. Due to its high genetic heterogeneity, ANSD is considered one of the most difficult hearing disorders to diagnose. The dataset from 270 known annotated single amino acid substitutions (SAV) related to ANSD was created. It was used to estimate the...

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Identifiers

PMID: 38139069
DOI: 10.3390/ijms242417240
PMCID: PMC10743402

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Predicting the Impact of OTOF Gene Missense Variants on Auditory Neuropathy Spectrum Disorder.PMID 38139069Read ↗

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