CREBBP c.1570dup ;(p.L524Pfs*4)

Variant ID: 16-3832687-A-AG

NM_004380.2(CREBBP):c.1570dup;(p.L524Pfs*4)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A 9-LncRNA Signature for Predicting Prognosis and Immune Response in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology
Wang, Xiaoxuan X; Lu, Yaxiao Y; Liu, Ziyi Z; Zhang, Yidan Y; He, You Y; Sun, Cong C; Li, Lanfang L; Zhai, Qiongli Q; Meng, Bin B; Ren, Xiubao X; Wu, Xudong X; Zhang, Huilai H; Wang, Xianhuo X
Publication Date: 2022

Variant appearance in text: CREBBP: 1570dupC; L524Pfs*4
PubMed Link: 35874768
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



Cell-free DNA sequencing as a potential screening tool for phase I targeted treatment in refractory/relapse diffuse large B-cell lymphoma.

Haematologica
Quivoron, Cyril C; Tarabay, Anthony A; Michot, Jean-Marie JM; Pagès, Arnaud A; Lecourt, Hélène H; Aupérin, Anne A; Danu, Alina A; Lazarovici, Julien J; Rossignol, Julien J; Ghez, David D; Dartigues, Peggy P; Vergé, Véronique V; Massard, Christophe C; Camara-Clayette, Valérie V; Ribrag, Vincent V; Sarkozy, Clémentine C
Publication Date: 2022-08-01

Variant appearance in text: CREBBP: 1570insC; L524fs
PubMed Link: 35320922
Variant Present in the following documents:
  • 2021_280464_QUIVORON_SUPPL.pdf
View BVdb publication page



Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery.

Frontiers In Cell And Developmental Biology
Aleo, Sebastiano S; Cinnante, Claudia C; Avignone, Sabrina S; Prada, Elisabetta E; Scuvera, Giulietta G; Ajmone, Paola Francesca PF; Selicorni, Angelo A; Costantino, Maria Antonella MA; Triulzi, Fabio F; Marchisio, Paola P; Gervasini, Cristina C; Milani, Donatella D
Publication Date: 2020

Variant appearance in text: CREBBP: 1570dupC
PubMed Link: 32850830
Variant Present in the following documents:
  • Main text
  • fcell-08-00710.pdf
View BVdb publication page