Publications:

appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: JAK2: 1797T>G; Ser599Arg

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s4.xlsx, sheet 9
• bty518_supplementary_data_s3.xlsx, sheet 9

View BVdb publication page

Uncoupling JAK2 V617F activation from cytokine-induced signalling by modulation of JH2 αC helix.

The Biochemical Journal

Leroy, Emilie E; Dusa, Alexandra A; Colau, Didier D; Motamedi, Amir A; Cahu, Xavier X; Mouton, Céline C; Huang, Lily J LJ; Shiau, Andrew K AK; Constantinescu, Stefan N SN

Publication Date: 2016-06-01

Variant appearance in text: JAK2: S599R

PubMed Link: 27029346

Variant Present in the following documents:

• Main text
• bj4731579.pdf

View BVdb publication page