Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder
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DOI: 10.3390/genes13040675
Abstract: For disorders with X-linked inheritance, variants may be transmitted through multiple generations of carrier females before an affected male is ascertained. Pathogenic RS1 variants exclusively cause X-linked retinoschisis (XLRS). While RS1 is constrained to variation,… read more here.
Keywords: recurrent pathogenic; founder effect; founder; rs1 ... See more keywords