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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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