CFTR c.1116+752A>G

Variant ID: 7-117181152-A-G

NM_000492.3(CFTR):c.1116+752A>G

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Universal strategy for preimplantation genetic testing for cystic fibrosis based on next generation sequencing.

Journal Of Assisted Reproduction And Genetics
Chamayou, Sandrine S; Sicali, Maria M; Lombardo, Debora D; Alecci, Carmelita C; Ragolia, Carmen C; Maglia, Elena E; Liprino, Annalisa A; Cardea, Clementina C; Storaci, Giorgia G; Romano, Simona S; Guglielmino, Antonino A
Publication Date: 2020-01

Variant appearance in text: rs2237725
PubMed Link: 31828483
Variant Present in the following documents:
  • 10815_2019_Article_1635.pdf
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs2237725
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Dynamic genetic linkage of intermediate blood pressure phenotypes during postural adaptations in a founder population.

Physiological Genomics
Arenas, I A IA; Tremblay, J J; Deslauriers, B B; Sandoval, J J; Ĺ eda, O O; Gaudet, D D; Merlo, E E; Kotchen, T T; Cowley, A W AW; Hamet, P P
Publication Date: 2013-02-15

Variant appearance in text: rs2237725
PubMed Link: 23269701
Variant Present in the following documents:
  • Main text
View BVdb publication page