CFTR c.742A>T ;(p.R248*)

Variant ID: 7-117175464-A-T

NM_000492.3(CFTR):c.742A>T;(p.R248*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases
Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X
Publication Date: 2022-03-21

Variant appearance in text: CFTR: 742A>T; R248X
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM1_ESM.xls, sheet 1
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: R248X
PubMed Link: 31234407
Variant Present in the following documents:
  • Main text
View BVdb publication page