CFTR c.85A>T ;(p.R29*)

Variant ID: 7-117144338-A-T

NM_000492.3(CFTR):c.85A>T;(p.R29*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Pharmacological approaches for targeting cystic fibrosis nonsense mutations.

European Journal Of Medicinal Chemistry
Sharma, Jyoti J; Keeling, Kim M KM; Rowe, Steven M SM
Publication Date: 2020-08-15

Variant appearance in text: CFTR: R29X
PubMed Link: 32512483
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies.

International Journal Of Molecular Sciences
Balestra, Dario D; Branchini, Alessio A
Publication Date: 2019-06-21

Variant appearance in text: CFTR: R29X
PubMed Link: 31234407
Variant Present in the following documents:
  • Main text
  • ijms-20-03036.pdf
View BVdb publication page