CREBBP c.3160G>T ;(p.E1054*)

Variant ID: 16-3817811-C-A

NM_004380.2(CREBBP):c.3160G>T;(p.E1054*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome.

African Health Sciences
Elalaoui, Siham Chafai SC; Smaili, Wiam W; Van-Gils, Julien J; Fergelot, Patricia P; Ratbi, Ilham I; Tajir, Mariam M; Arveiler, Benoit B; Lacombe, Didier D; Sefiani, Abdelaziz A
Publication Date: 2021-06

Variant appearance in text: CREBBP: 3160G>T
PubMed Link: 34795756
Variant Present in the following documents:
  • Main text
  • AFHS2102-0960.pdf
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: CREBBP: E1054*
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s003.xlsx, sheet 1
View BVdb publication page