Publications:

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Nature Genetics

Kosmicki, Jack A JA; Samocha, Kaitlin E KE; Howrigan, Daniel P DP; Sanders, Stephan J SJ; Slowikowski, Kamil K; Lek, Monkol M; Karczewski, Konrad J KJ; Cutler, David J DJ; Devlin, Bernie B; Roeder, Kathryn K; Buxbaum, Joseph D JD; Neale, Benjamin M BM; MacArthur, Daniel G DG; Wall, Dennis P DP; Robinson, Elise B EB; Daly, Mark J MJ

Publication Date: 2017-04

Variant appearance in text: TLN2: 788+6T>G

PubMed Link: 28191890

Variant Present in the following documents:

• NIHMS845776-supplement-3.xlsx, sheet 1

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