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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OTOF

Variant:p.H513del1

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OTOF

NM_194248.3:p.H513del1

hg38:chr2:26482445 AGTG>A

Associated Papers

High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder.

Zhang QJ et al.

Clinical Genetics, 2016

26818607 (PubMed )

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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."