CREBBP c.4189_4192del ;(p.F1397Lfs*61)

Variant ID: 16-3789666-GCAAA-G

NM_004380.2(CREBBP):c.4189_4192del;(p.F1397Lfs*61)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.

Molecular Genetics & Genomic Medicine
Choi, Naye N; Kim, Hwa Young HY; Lim, Byung Chan BC; Chae, Jong-Hee JH; Kim, Soo Yeon SY; Ko, Jung Min JM
Publication Date: 2021-10

Variant appearance in text: CREBBP: 4189_4192del
PubMed Link: 34427995
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1791.pdf
View BVdb publication page



Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.

Molecular Genetics & Genomic Medicine
Choi, Naye N; Kim, Hwa Young HY; Lim, Byung Chan BC; Chae, Jong-Hee JH; Kim, Soo Yeon SY; Ko, Jung Min JM
Publication Date: 2021-10

Variant appearance in text: CREBBP: 4189_4192del
PubMed Link: 34427995
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1791.pdf
View BVdb publication page