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.




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