Publications:

Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: SCN1A: 1469G>A; S490N

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

Plos Genetics

Singh, Nanda A NA; Pappas, Chris C; Dahle, E Jill EJ; Claes, Lieve R F LR; Pruess, Timothy H TH; De Jonghe, Peter P; Thompson, Joel J; Dixon, Missy M; Gurnett, Christina C; Peiffer, Andy A; White, H Steve HS; Filloux, Francis F; Leppert, Mark F MF

Publication Date: 2009-09

Variant appearance in text: SCN1A: 1469G>A; S490N

PubMed Link: 19763161

Variant Present in the following documents:

• Main text
• pgen.1000649.pdf

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