Publications:

ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.

Nature Communications

Rashid, Mamunur M; van der Horst, Michiel M; Mentzel, Thomas T; Butera, Francesca F; Ferreira, Ingrid I; Pance, Alena A; Rütten, Arno A; Luzar, Bostjan B; Marusic, Zlatko Z; de Saint Aubain, Nicolas N; Ko, Jennifer S JS; Billings, Steven D SD; Chen, Sofia S; Abi Daoud, Marie M; Hewinson, James J; Louzada, Sandra S; Harms, Paul W PW; Cerretelli, Guia G; Robles-Espinoza, Carla Daniela CD; Patel, Rajiv M RM; van der Weyden, Louise L; Bakal, Chris C; Hornick, Jason L JL; Arends, Mark J MJ; Brenn, Thomas T; Adams, David J DJ

Publication Date: 2019-05-17

Variant appearance in text: PKD1: 3643C>G; Leu1215Val

PubMed Link: 31101826

Variant Present in the following documents:

• 41467_2019_9979_MOESM5_ESM.xlsx, sheet 5

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Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.

Human Mutation

Borràs, Daniel M DM; Vossen, Rolf H A M RHAM; Liem, Michael M; Buermans, Henk P J HPJ; Dauwerse, Hans H; van Heusden, Dave D; Gansevoort, Ron T RT; den Dunnen, Johan T JT; Janssen, Bart B; Peters, Dorien J M DJM; Losekoot, Monique M; Anvar, Seyed Yahya SY

Publication Date: 2017-07

Variant appearance in text: PKD1: 3643C>G; Leu1215Val; rs144338515

PubMed Link: 28378423

Variant Present in the following documents:

• Main text
• HUMU-38-870.pdf
• HUMU-38-870-s001.pdf

View BVdb publication page