CREBBP c.4280+42C>G

Variant ID: 16-3789537-G-C

NM_004380.2(CREBBP):c.4280+42C>G

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Frequent mutation of hypoxia-related genes in persistent pulmonary hypertension of the newborn.

Respiratory Research
Wang, Mingbang M; Zhuang, Deyi D; Mei, Mei M; Ma, Haiyan H; Li, Zixiu Z; He, Fusheng F; Cheng, Guoqiang G; Lin, Guang G; Zhou, Wenhao W
Publication Date: 2020-02-13

Variant appearance in text: rs129967
PubMed Link: 32054482
Variant Present in the following documents:
  • 12931_2020_1314_MOESM1_ESM.xlsx, sheet 7
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs129967
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT.

American Journal Of Human Genetics
Barnby, Gabrielle G; Abbott, Aaron A; Sykes, Nuala N; Morris, Andrew A; Weeks, Daniel E DE; Mott, Richard R; Lamb, Janine J; Bailey, Anthony J AJ; Monaco, Anthony P AP; ,
Publication Date: 2005-06

Variant appearance in text: rs129967
PubMed Link: 15830322
Variant Present in the following documents:
  • Main text
View BVdb publication page