CREBBP c.3609+1G>T

Variant ID: 16-3807809-C-A

NM_004380.2(CREBBP):c.3609+1G>T

This variant was identified in 1 publication

View GRCh38 version.




Publications:


New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.

Molecular Genetics & Genomic Medicine
Pérez-Grijalba, Virginia V; García-Oguiza, Alberto A; López, María M; Armstrong, Judith J; García-Miñaur, Sixto S; Mesa-Latorre, Jose María JM; O'Callaghan, Mar M; Pineda Marfa, Mercé M; Ramos-Arroyo, Maria Antonia MA; Santos-Simarro, Fernando F; Seidel, Verónica V; Domínguez-Garrido, Elena E
Publication Date: 2019-11

Variant appearance in text: CREBBP: 3609+1G>T
PubMed Link: 31566936
Variant Present in the following documents:
  • Main text
  • MGG3-7-e972.pdf
View BVdb publication page