Publications:

The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: PRRT2: P279S

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

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The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications

Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM

Publication Date: 2018-09-10

Variant appearance in text: PRRT2: 835C>T; P279S

PubMed Link: 30202019

Variant Present in the following documents:

• 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1

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NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.

The Journal Of Investigative Dermatology

South, Andrew P AP; Purdie, Karin J KJ; Watt, Stephen A SA; Haldenby, Sam S; den Breems, Nicoline N; Dimon, Michelle M; Arron, Sarah T ST; Kluk, Michael J MJ; Aster, Jon C JC; McHugh, Angela A; Xue, Dylan J DJ; Dayal, Jasbani Hs JH; Robinson, Kim S KS; Rizvi, Sm Hasan SH; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM

Publication Date: 2014-10

Variant appearance in text: PRRT2: P279S

PubMed Link: 24662767

Variant Present in the following documents:

• NIHMS57574-supplement-data_tables.xlsx, sheet 2

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PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.

Neurology

Cloarec, Robin R; Bruneau, Nadine N; Rudolf, Gabrielle G; Massacrier, Annick A; Salmi, Manal M; Bataillard, Marc M; Boulay, Clotilde C; Caraballo, Roberto R; Fejerman, Natalio N; Genton, Pierre P; Hirsch, Edouard E; Hunter, Alasdair A; Lesca, Gaetan G; Motte, Jacques J; Roubertie, Agathe A; Sanlaville, Damien D; Wong, Sau-Wei SW; Fu, Ying-Hui YH; Rochette, Jacques J; Ptácek, Louis J LJ; Szepetowski, Pierre P

Publication Date: 2012-11-20

Variant appearance in text: PRRT2: P279S

PubMed Link: 23077017

Variant Present in the following documents:

• Main text

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