Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.W718*
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OTOF

NM_194248.3:p.W718*

Associated Papers

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

Exome-First Strategy in Adult Patients With CKD: A Cohort Study.

Doreille A et al.

Kidney International Reports, 2023

36938085 (PubMed )
Supplement: mmc3.xlsx › Sheet1

The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.

Thorpe RK et al.

Human Genetics, 2022

Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.

Florentine MM et al.

Human Genetics, 2022

34515852 (PubMed )
Supplement: 439_2021_2338_MOESM2_ESM.xlsx › All_variants

Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss.

Batissoco AC et al.

Human Genetics, 2022

Genetic etiology of non-syndromic hearing loss in Latin America.

Lezirovitz K et al.

Human Genetics, 2022

Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.

Quaio CRAC et al.

Frontiers in Genetics, 2022

36147510 (PubMed )
Supplement: DataSheet1.xlsx › Supplementary_Table_4_

The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment.

Vona B et al.

Genes, 2020

33256196 (PubMed )
Supplement: genes-11-01411-s001.xlsx › OTOF_NM_001287489
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."