Bibliome.ai browser hg19
Search
About
Stats
FAQ
CREBBP c.992C>T ;(p.S331L)
Variant ID: 16-3843611-G-A
NM_004380.2(
CREBBP
):c.992C>T;(p.S331L)
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:
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.
International Journal Of Molecular Sciences
Latorre-Pellicer, Ana A; Ascaso, Ángela Á; Trujillano, Laura L; Gil-Salvador, Marta M; Arnedo, Maria M; Lucia-Campos, Cristina C; Antoñanzas-Pérez, Rebeca R; Marcos-Alcalde, Iñigo I; Parenti, Ilaria I; Bueno-Lozano, Gloria G; Musio, Antonio A; Puisac, Beatriz B; Kaiser, Frank J FJ; Ramos, Feliciano J FJ; Gómez-Puertas, Paulino P; Pié, Juan J
Publication Date: 2020-02-04
Variant appearance in text: RSTS: 992C>T
PubMed Link:
32033219
Variant Present in the following documents:
Main text
ijms-21-01042.pdf
View BVdb publication page