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CFTR c.1546A>G ;(p.R516G)
Variant ID: 7-117199671-A-G
NM_000492.3(
CFTR
):c.1546A>G;(p.R516G)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Image-based β-adrenergic sweat rate assay captures minimal cystic fibrosis transmembrane conductance regulator function.
Pediatric Research
Salinas, Danieli Barino DB; Peng, Yu-Hao YH; Horwich, Brian B; Wee, Choo Phei CP; Frisbee, Eric E; Maarek, Jean-Michel JM
Publication Date: 2020-01
Variant appearance in text: CFTR: R516G
PubMed Link:
31344706
Variant Present in the following documents:
Main text
nihms-1534865.pdf
View BVdb publication page
Combination probes with intercalating anchors and proximal fluorophores for DNA and RNA detection.
Nucleic Acids Research
Qiu, Jieqiong J; Wilson, Adam A; El-Sagheer, Afaf H AH; Brown, Tom T
Publication Date: 2016-09-30
Variant appearance in text: CFTR: R516G
PubMed Link:
27369379
Variant Present in the following documents:
Main text
gkw579.pdf
View BVdb publication page
A highly fluorescent DNA toolkit: synthesis and properties of oligonucleotides containing new Cy3, Cy5 and Cy3B monomers.
Nucleic Acids Research
Hall, Lucy M LM; Gerowska, Marta M; Brown, Tom T
Publication Date: 2012-08
Variant appearance in text: CFTR: R516G
PubMed Link:
22495935
Variant Present in the following documents:
Main text
gks303.pdf
View BVdb publication page