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Article

Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.

European journal of human genetics : EJHG - 1 Jun 2024

Ramzan Memoona, Zafeer Mohammad Faraz, Abad Clemer, Guo Shengru, Owrang Daniel, Alper Ozgul, Mutlu Ahmet, Atik Tahir, Duman Duygu, Bademci Guney, Vona Barbara, Kalcioglu Mahmut Tayyar, Walz Katherina, Tekin Mustafa

Abstract excerpt

Hearing loss (HL) is a heterogenous trait with pathogenic variants in more than 200 genes that have been discovered in studies involving small and large HL families. Over one-third of families with hereditary HL remain etiologically undiagnosed after screening for mutations in the recognized genes. Genetic heterogeneity complicates the analysis in multiplex families where variants in more than one gene can be...

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Identifiers

PMID: 38374469
DOI: 10.1038/s41431-024-01562-6
PMCID: PMC11153511

Genes

TOGARAM2

Provenance

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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