CREBBP c.7000C>T ;(p.Q2334*)

Variant ID: 16-3778048-G-A

NM_004380.2(CREBBP):c.7000C>T;(p.Q2334*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.

Clinical And Translational Medicine
Li, Ziyang Z; Huang, Wensou W; Yin, Jiani C JC; Na, Chenglong C; Wu, Xue X; Shao, Yang Y; Ding, Huaxin H; Li, Jinming J
Publication Date: 2020-11

Variant appearance in text: CREBBP: 7000C>T; Q2334X
PubMed Link: 33252848
Variant Present in the following documents:
  • CTM2-10-e222-s003.xlsx, sheet 1
View BVdb publication page



Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome.

Annals Of Pediatric Endocrinology & Metabolism
Son, Hyun Woo HW; Lee, Jeong Eun JE; Oh, Seung Hwan SH; Keum, Changwon C; Chung, Woo Yeong WY
Publication Date: 2020-06

Variant appearance in text: CREBBP: 7000C>T; Gln2334*
PubMed Link: 32615693
Variant Present in the following documents:
  • Main text
View BVdb publication page