CFTR c.1611C>A ;(p.D537E)

Variant ID: 7-117227819-C-A

NM_000492.3(CFTR):c.1611C>A;(p.D537E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: rs397508240
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
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The use of DHPLC (Denaturing High Performance Liquid Chromatography) in II level screening of the CFTR gene in Prenatal Diagnosis.

Journal Of Prenatal Medicine
Mesoraca, Alvaro A; Di Natale, Manuela M; Cima, Antonella A; Di Giacomo, Gianluca G; Sarti, Monica M; Barone, Maria Antonietta MA; Bizzoco, Domenico D; Cignini, Pietro P; Mobili, Luisa L; Dʼemidio, Laura L; Giorlandino, Claudio C
Publication Date: 2010-07

Variant appearance in text: CFTR: D537E
PubMed Link: 22439061
Variant Present in the following documents:
  • Main text
View BVdb publication page