HP c.616_617delinsTG ;(p.L206W)

Variant ID: 16-72094184-CT-TG

NM_005143.3(HP):c.616_617delinsTG;(p.L206W)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A two-center analysis of hyperpolarized 129Xe lung MRI in stable pediatric cystic fibrosis: Potential as a biomarker for multi-site trials.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Couch, Marcus J MJ; Thomen, Robert R; Kanhere, Nikhil N; Hu, Raymond R; Ratjen, Felix F; Woods, Jason J; Santyr, Giles G
Publication Date: 2019-09

Variant appearance in text: HP: L206W
PubMed Link: 30922812
Variant Present in the following documents:
  • Main text
View BVdb publication page



Feasibility, tolerability and safety of pediatric hyperpolarized 129Xe magnetic resonance imaging in healthy volunteers and children with cystic fibrosis.

Pediatric Radiology
Walkup, Laura L LL; Thomen, Robert P RP; Akinyi, Teckla G TG; Watters, Erin E; Ruppert, Kai K; Clancy, John P JP; Woods, Jason C JC; Cleveland, Zackary I ZI
Publication Date: 2016-11

Variant appearance in text: HP: L206W
PubMed Link: 27492388
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hyperpolarized 129Xe for investigation of mild cystic fibrosis lung disease in pediatric patients.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Thomen, Robert P RP; Walkup, Laura L LL; Roach, David J DJ; Cleveland, Zackary I ZI; Clancy, John P JP; Woods, Jason C JC
Publication Date: 2017-03

Variant appearance in text: HP: L206W
PubMed Link: 27477942
Variant Present in the following documents:
  • Main text
View BVdb publication page