SSBP2 c.168A>T ;(p.E56D)

Variant ID: 5-80932405-T-A

NM_001256732.1(SSBP2):c.168A>T;(p.E56D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.

Cell Reports
Wang, Sheng S; Mandell, Jeffrey D JD; Kumar, Yogesh Y; Sun, Nawei N; Morris, Montana T MT; Arbelaez, Juan J; Nasello, Cara C; Dong, Shan S; Duhn, Clif C; Zhao, Xin X; Yang, Zhiyu Z; Padmanabhuni, Shanmukha S SS; Yu, Dongmei D; King, Robert A RA; Dietrich, Andrea A; Khalifa, Najah N; Dahl, Niklas N; Huang, Alden Y AY; Neale, Benjamin M BM; Coppola, Giovanni G; Mathews, Carol A CA; Scharf, Jeremiah M JM; , ; , ; , ; Fernandez, Thomas V TV; Buxbaum, Joseph D JD; De Rubeis, Silvia S; Grice, Dorothy E DE; Xing, Jinchuan J; Heiman, Gary A GA; Tischfield, Jay A JA; Paschou, Peristera P; Willsey, A Jeremy AJ; State, Matthew W MW
Publication Date: 2018-09-25

Variant appearance in text: SSBP2: E56D
PubMed Link: 30257206
Variant Present in the following documents:
  • NIHMS1508956-supplement-3.xlsx, sheet 1
View BVdb publication page