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CFTR c.580G>T ;(p.G194*)
Variant ID: 7-117175302-G-T
NM_000492.3(
CFTR
):c.580G>T;(p.G194*)
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:
Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.
International Journal Of Molecular Sciences
Bezzerri, Valentino V; Api, Martina M; Allegri, Marisole M; Fabrizzi, Benedetta B; Corey, Seth J SJ; Cipolli, Marco M
Publication Date: 2020-06-30
Variant appearance in text: CFTR: G194X
PubMed Link:
32630050
Variant Present in the following documents:
Main text
ijms-21-04672.pdf
View BVdb publication page
Efficacy of Postnatal In Vivo Nonsense Suppression Therapy in a Pax6 Mouse Model of Aniridia.
Molecular Therapy. Nucleic Acids
Wang, Xia X; Gregory-Evans, Kevin K; Wasan, Kishor M KM; Sivak, Olena O; Shan, Xianghong X; Gregory-Evans, Cheryl Y CY
Publication Date: 2017-06-16
Variant appearance in text: CFTR: G194X
PubMed Link:
28624217
Variant Present in the following documents:
mmc2.pdf
main.pdf
View BVdb publication page
Toward postnatal reversal of ocular congenital malformations.
The Journal Of Clinical Investigation
Sahel, José-Alain JA; Marazova, Katia K
Publication Date: 2014-01
Variant appearance in text: CFTR: Gly194X
PubMed Link:
24355915
Variant Present in the following documents:
Main text
View BVdb publication page