Publications:

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

Nature

O'Roak, Brian J BJ; Vives, Laura L; Girirajan, Santhosh S; Karakoc, Emre E; Krumm, Niklas N; Coe, Bradley P BP; Levy, Roie R; Ko, Arthur A; Lee, Choli C; Smith, Joshua D JD; Turner, Emily H EH; Stanaway, Ian B IB; Vernot, Benjamin B; Malig, Maika M; Baker, Carl C; Reilly, Beau B; Akey, Joshua M JM; Borenstein, Elhanan E; Rieder, Mark J MJ; Nickerson, Deborah A DA; Bernier, Raphael R; Shendure, Jay J; Eichler, Evan E EE

Publication Date: 2012-04-04

Variant appearance in text: SCN1A: HIS795TYR

PubMed Link: 22495309

Variant Present in the following documents:

• Main text
• nihms359279.pdf
• NIHMS359279-supplement-2.pdf

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