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CFTR c.1585-13704T>C
Variant ID: 7-117214089-T-C
NM_000492.3(
CFTR
):c.1585-13704T>C
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Systems Analysis of Biliary Atresia Through Integration of High-Throughput Biological Data.
Frontiers In Physiology
Min, Jun J; Ningappa, Mylarappa M; So, Juhoon J; Shin, Donghun D; Sindhi, Rakesh R; Subramaniam, Shankar S
Publication Date: 2020
Variant appearance in text: rs3808185
PubMed Link:
32848883
Variant Present in the following documents:
Main text
fphys-11-00966.pdf
View BVdb publication page
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: rs3808185
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: rs3808185
PubMed Link:
30214008
Variant Present in the following documents:
NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page
Common CFTR gene variants influence body composition and survival in rural Ghana.
Human Genetics
Kuningas, Maris M; van Bodegom, David D; May, Linda L; Meij, Johannes J JJ; Slagboom, P Eline PE; Westendorp, Rudi G J RG
Publication Date: 2010-02
Variant appearance in text: rs3808185
PubMed Link:
19890664
Variant Present in the following documents:
Main text
439_2009_Article_762.pdf
View BVdb publication page