Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

作者:Stern D; Cho M T; Chikarmane R; Willaert R; Retterer K; Kendall F; Deardorff M; Hopkins S; Bedoukian E; Slavotinek A; Vergano S Schrier; Spangler B; McDonald M; McConkie Rosell A; Burton B K; Kim K H; Oundjian N; Kronn D; Chandy N; Baskin B; Sacoto M J Guillen; Wentzensen I M; McLaughlin H M; McKnight D; Chung W K*
来源:Clinical Genetics, 2017, 92(2): 221-223.
DOI:10.1111/cge.12956