A novel USH2A variant in a patient with hearing loss
Release date:
2021-07-28
Description:
We identified the compound heterozygous variants c.8559-2A>G and c.4749delT in Usher syndrome type 2A (USH2A) gene as the underlying cause of the patient; the former variation has been reported in the literature, but not the latter
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HRA001084.xlsx