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SNP information rs80356586

RS80356586

Normal allele: AA

OTOF mutations causing a rare temperature-sensitive auditory neuropathy.

Polymorphism rs80356586 is related to topics like this:

Hereditary polyneuropathy

The peripheral nervous system is affected by a diverse range of diseases known as hereditary...

Research and publications:

  9657592   Transient deafness due to temperature-sensitive auditory neuropathy.

  12127154   Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.

  16371502   OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.

  20301429   OTOF-Related Deafness.

  34714320   Comprehensive functional network analysis and screening of deleterious pathogenic variants in non-syndromic hearing loss causative genes.

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Colorectal cancer genes

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