Genotypes detected by APEX in 144 congenitally hearing impaired individuals with one or no previously identified <i>GJB2</i> or <i>GJB6</i> mutations.
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*Benign Variant. **Unknown clinical significance. †Homoplasmic. #Pathogenic with reduced penetrance; of unclear clinical significance at the time of study, which is why this patient was included. [30].
创建时间：
2010-07-26
