Publications:

Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit.

Leukemia

Cucco, Francesco F; Barrans, Sharon S; Sha, Chulin C; Clipson, Alexandra A; Crouch, Simon S; Dobson, Rachel R; Chen, Zi Z; Thompson, Joe Sneath JS; Care, Matthew A MA; Cummin, Thomas T; Caddy, Josh J; Liu, Hongxiang H; Robinson, Anne A; Schuh, Anna A; Fitzgibbon, Jude J; Painter, Daniel D; Smith, Alexandra A; Roman, Eve E; Tooze, Reuben R; Burton, Catherine C; Davies, Andrew J AJ; Westhead, David R DR; Johnson, Peter W M PWM; Du, Ming-Qing MQ

Publication Date: 2020-05

Variant appearance in text: CREBBP: P1538R

PubMed Link: 31844144

Variant Present in the following documents:

• 41375_2019_691_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.

Molecular Genetics & Genomic Medicine

Wincent, Josephine J; Luthman, Aron A; van Belzen, Martine M; van der Lans, Christian C; Albert, Johanna J; Nordgren, Ann A; Anderlid, Britt-Marie BM

Publication Date: 2016-01

Variant appearance in text: CREBBP: 4613C>G; Pro1538Arg

PubMed Link: 26788536

Variant Present in the following documents:

• Main text
• MGG3-4-039.pdf

View BVdb publication page