Publications:

Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: ATM: Leu1824Arg

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

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SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.

Orphanet Journal Of Rare Diseases

Nanetti, Lorenzo L; Cavalieri, Simona S; Pensato, Viviana V; Erbetta, Alessandra A; Pareyson, Davide D; Panzeri, Marta M; Zorzi, Giovanna G; Antozzi, Carlo C; Moroni, Isabella I; Gellera, Cinzia C; Brusco, Alfredo A; Mariotti, Caterina C

Publication Date: 2013-08-14

Variant appearance in text: ATM: L1824R

PubMed Link: 23941260

Variant Present in the following documents:

• Main text
• 1750-1172-8-123.pdf

View BVdb publication page