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Overview of the study design and the identified KDM6B variants
(A) Schematic illustration of the study design.
(B) KDM6B variants, and their positions, identified in independent families. JmJC, Jumonji C domain; Zn, zinc; PTVs, protein-truncating (nonsense, frameshift, canonical splice) variants; PAVs, protein altering (missense and in-frame indel) variants.
