Autor: Li, J., Zhan, Z., Zhang, X., Wu, B., Liu, W.
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Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants
BackgroundThis study aimed to analyse the distribution and genotype-phenotype correlations of pathogenic variants among 11 509 newborns carrying at least one common deafness-associated variant.MethodsA genotype distribution analysis was performed on 11…