Publications:

Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5.

Nature Communications

Linders, Peter T A PTA; Gerretsen, Eveline C F ECF; Ashikov, Angel A; Vals, Mari-Anne MA; de Boer, Rinse R; Revelo, Natalia H NH; Arts, Richard R; Baerenfaenger, Melissa M; Zijlstra, Fokje F; Huijben, Karin K; Raymond, Kimiyo K; Muru, Kai K; Fjodorova, Olga O; Pajusalu, Sander S; Õunap, Katrin K; Ter Beest, Martin M; Lefeber, Dirk D; van den Bogaart, Geert G

Publication Date: 2021-10-28

Variant appearance in text: rs199511910

PubMed Link: 34711829

Variant Present in the following documents:

• 41467_2021_26534_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: EPN3: 272G>A; R91Q

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page