Purpose: To validate a novel BeadChip assay system for cystic fibrosis (CF) mutation testing using the panel of 25 ACMG recommended mutations and D1152H. Methods: DNA from 519 individuals originally ...
Because GJB2/GJB6 genetic testing offers clinical and informational benefits, it is a near certainty that it will become an important addition to current EDHI protocols. In this commentary, we discuss ...
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