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pro vyhledávání: '"Sebastien Pierre, Janssens de Varebeke"'
Autor:
Anneleen, Beerten, Helena, Bosmans, Meindert, Lauwers, Helene, Vermeulen, Sebastien Pierre, Janssens de Varebeke
Publikováno v:
Otology & Neurotology. 43:e969-e975
DFNA9 is a form of autosomal progressive sensorineural hearing loss, caused by more than 30 variants in the COCH gene. p.Pro51Ser (p.P51S) variant is characterized by late-onset functional deterioration toward bilateral severe hearing loss and vestib