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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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Publicat a:Mol Genet Genomic Med
Autors principals: Doll, Julia, Hofrichter, Michaela A. H., Bahena, Paulina, Heihoff, Alfred, Segebarth, Dennis, Müller, Tobias, Dittrich, Marcus, Haaf, Thomas, Vona, Barbara
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2020
Matèries:
Accés en línia: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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