Exome sequencing identifies novel and known mutations in families with intellectual disability
Abstract Background Intellectual disability (ID) is a phenotypically and genetically heterogeneous disorder. Methods In this study, genome wide SNP microarray and whole exome sequencing are used for the variant identification in eight Pakistani families with ID. Beside ID, most of the affected indiv...
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BMC,
2021-08-01T00:00:00Z.
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