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A novel missense variant in MYO3A is associated with autosomal dominant high‐frequency hearing loss in a German family

BACKGROUND: MYO3A, encoding the myosin IIIA protein, is associated with autosomal recessive and autosomal dominant nonsyndromic hearing loss. To date, only two missense variants located in the motor‐head domain of MYO3A have been described in autosomal dominant families with progressive, mild‐to‐pro...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Doll, Julia, Hofrichter, Michaela A. H., Bahena, Paulina, Heihoff, Alfred, Segebarth, Dennis, Müller, Tobias, Dittrich, Marcus, Haaf, Thomas, Vona, Barbara
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7434730/
https://ncbi.nlm.nih.gov/pubmed/32519820
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1343
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