CFTR c.4028G>T ;(p.G1343V)

Variant ID: 7-117304806-G-T

NM_000492.3(CFTR):c.4028G>T;(p.G1343V)

This variant was identified in 3 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: 4028G>T; G1343V
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: rs773458471
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Clinical and experimental applications of sodium phenylbutyrate.

Drugs In R&D
Iannitti, Tommaso T; Palmieri, Beniamino B
Publication Date: 2011-09-01

Variant appearance in text: CFTR: G1343V
PubMed Link: 21902286
Variant Present in the following documents:
  • Main text
  • 40268_2012_Article_11030227.pdf
View BVdb publication page