Bibliome.ai browser hg19
Search
About
Stats
FAQ
CREBBP c.7303C>T ;(p.L2435=)
Variant ID: 16-3777745-G-A
NM_004380.2(
CREBBP
):c.7303C>T;(p.L2435=)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: 7303C>T
PubMed Link:
32615693
Variant Present in the following documents:
Main text
View BVdb publication page