Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.P534fs
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OTOF

NM_194248.3:p.P534fs

Associated Papers

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

Cochlear Implantation Outcomes in Patients With OTOF Mutations.

Zheng D et al.

Frontiers in Neuroscience, 2020

32508568 (PubMed )
Supplement: Table_1.xlsx › Genotype

Audibility, speech perception and processing of temporal cues in ribbon synaptic disorders due to OTOF mutations.

Santarelli R et al.

Hearing Research, 2015

Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception.

Santarelli R et al.

Ear and Hearing, 0

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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."