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.




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