Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome (2010)

by P M Krawitz, M R Schweiger, C Rodelsperger, C Marcelis, U Kolsch, C Meisel, F Stephani, T Kinoshita, Y Murakami, S Bauer
Venue:Nat. Genet