Functional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome
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MYO7A is a causal gene, underlying Usher syndrome type 1B (USH1B) and both autosomal recessive (DFNB2) and dominant (DFNA11) non-syndromic hearing loss. Despite the large number of reported MYO7A variants (over 2,200), variants located in an extended splice re... ...
