Publications:

Obesity Due to Steroid Receptor Coactivator-1 Deficiency Is Associated With Endocrine and Metabolic Abnormalities.

The Journal Of Clinical Endocrinology And Metabolism

Cacciottolo, Tessa M TM; Henning, Elana E; Keogh, Julia M JM; Bel Lassen, Pierre P; Lawler, Katherine K; Bounds, Rebecca R; Ahmed, Rachel R; Perdikari, Aliki A; Mendes de Oliveira, Edson E; Smith, Miriam M; Godfrey, Edmund M EM; Johnson, Elspeth E; Hodson, Leanne L; Clément, Karine K; van der Klaauw, Agatha A AA; Farooqi, I Sadaf IS

Publication Date: 2022-05-17

Variant appearance in text: JAK2: 2411A>G

PubMed Link: 35137184

Variant Present in the following documents:

• Main text

View BVdb publication page

PD-L1 targeting and subclonal immune escape mediated by PD-L1 mutations in metastatic colorectal cancer.

Journal For Immunotherapy Of Cancer

Stein, Alexander A; Simnica, Donjete D; Schultheiß, Christoph C; Scholz, Rebekka R; Tintelnot, Joseph J; Gökkurt, Eray E; von Wenserski, Lisa L; Willscher, Edith E; Paschold, Lisa L; Sauer, Markus M; Lorenzen, Sylvie S; Riera-Knorrenschild, Jorge J; Depenbusch, Reinhard R; Ettrich, Thomas J TJ; Dörfel, Steffen S; Al-Batran, Salah-Eddin SE; Karthaus, Meinolf M; Pelzer, Uwe U; Waberer, Lisa L; Hinke, Axel A; Bauer, Marcus M; Massa, Chiara C; Seliger, Barbara B; Wickenhauser, Claudia C; Bokemeyer, Carsten C; Hegewisch-Becker, Susanna S; Binder, Mascha M

Publication Date: 2021-07

Variant appearance in text: JAK2: 2411A>G; Asp804Gly

PubMed Link: 34315821

Variant Present in the following documents:

• jitc-2021-002844supp002.xlsx, sheet 1

View BVdb publication page