CFTR c.3761T>A ;(p.L1254*)

Variant ID: 7-117282535-T-A

NM_000492.3(CFTR):c.3761T>A;(p.L1254*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research
Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C
Publication Date: 2021-12

Variant appearance in text: CFTR: L1254X
PubMed Link: 34857524
Variant Present in the following documents:
  • bmjresp-2021-000998supp001.pdf
View BVdb publication page



Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research
Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C
Publication Date: 2021-12

Variant appearance in text: CFTR: L1254X
PubMed Link: 34857524
Variant Present in the following documents:
  • bmjresp-2021-000998supp001.pdf
View BVdb publication page



Paracellular bicarbonate flux across human cystic fibrosis airway epithelia tempers changes in airway surface liquid pH.

The Journal Of Physiology
Thornell, Ian M IM; Rehman, Tayyab T; Pezzulo, Alejandro A AA; Welsh, Michael J MJ
Publication Date: 2020-10

Variant appearance in text: CFTR: L1254X
PubMed Link: 32627187
Variant Present in the following documents:
  • Main text
  • TJP-598-4307.pdf
View BVdb publication page



Cigarette Smoke Exposure Induces Retrograde Trafficking of CFTR to the Endoplasmic Reticulum.

Scientific Reports
Marklew, Abigail J AJ; Patel, Waseema W; Moore, Patrick J PJ; Tan, Chong D CD; Smith, Amanda J AJ; Sassano, M Flori MF; Gray, Michael A MA; Tarran, Robert R
Publication Date: 2019-09-20

Variant appearance in text: CFTR: L1254X
PubMed Link: 31541117
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_49544.pdf
View BVdb publication page