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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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Bibliografische gegevens
Gepubliceerd in:Mol Genet Genomic Med
Hoofdauteurs: Doll, Julia, Hofrichter, Michaela A. H., Bahena, Paulina, Heihoff, Alfred, Segebarth, Dennis, Müller, Tobias, Dittrich, Marcus, Haaf, Thomas, Vona, Barbara
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley and Sons Inc. 2020
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Online toegang: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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