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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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