CREBBP c.3546_3547insCC ;(p.E1183Pfs*68)

Variant ID: 16-3807872-C-CGG

NM_004380.2(CREBBP):c.3546_3547insCC;(p.E1183Pfs*68)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia.

Bmc Medical Genetics
Marzuillo, Pierluigi P; Grandone, Anna A; Coppola, Ruggero R; Cozzolino, Domenico D; Festa, Adalgisa A; Messa, Federica F; Luongo, Caterina C; Del Giudice, Emanuele Miraglia EM; Perrone, Laura L
Publication Date: 2013-02-23

Variant appearance in text: CREBBP: 3546insCC
PubMed Link: 23432975
Variant Present in the following documents:
  • Main text
  • 1471-2350-14-28.pdf
View BVdb publication page