Title: Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay.
Authors: Fielder SM, Rosenfeld JA, Burrage LC, Emrick L, Lalani S, Attali R, Bembenek JN, Hoang H, Baldridge D, Silverman GA, Schedl T, Pak SC
Journal: Mol Genet Metab
Published: 2022-03-22