Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.R544C
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OTOF

NM_194248.3:p.R544C

Associated Papers

Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss.

Zhuri D et al.

The Journal of International Advanced Otology, 2024

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.

Liu S et al.

Genome Medicine, 2023

38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S3

Searching for the Molecular Basis of Partial Deafness.

Oziębło D et al.

International Journal of Molecular Sciences, 2022

35682719 (PubMed )
Supplement: ijms-23-06029-s001.zip › TableS2.xlsx › Arkusz

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

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.

Tropitzsch A et al.

Ear and Hearing, 0

34753855 (PubMed )
Supplement: aud-43-1049-s003.xlsx › variant_3
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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."