CREBBP c.6985C>T ;(p.H2329Y)

Variant ID: 16-3778063-G-A

NM_004380.2(CREBBP):c.6985C>T;(p.H2329Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: CREBBP: H2329Y
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.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: 6985C>T
PubMed Link: 32615693
Variant Present in the following documents:
  • Main text
View BVdb publication page