Varaico: Literature-Extracted Genetic Variants

Gene:MYOF
Variant:p.K1446_E1447Splc
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MYOF

NM_013451.4:p.K1446_E1447Splc

Associated Papers

Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.

Varga R et al.

Journal of Medical Genetics, 2003

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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."