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CFTR c.178_180delinsTAT ;(p.E60Y)
Variant ID: 7-117149101-GAG-TAT
NM_000492.3(
CFTR
):c.178_180delinsTAT;(p.E60Y)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Positional effects of premature termination codons on the biochemical and biophysical properties of CFTR.
The Journal Of Physiology
Yeh, Jiunn-Tyng JT; Hwang, Tzyh-Chang TC
Publication Date: 2020-02
Variant appearance in text: CFTR: E60Y
PubMed Link:
31585024
Variant Present in the following documents:
Main text
View BVdb publication page
Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.
Erj Open Research
Pranke, Iwona I; Bidou, Laure L; Martin, Natacha N; Blanchet, Sandra S; Hatton, Aurélie A; Karri, Sabrina S; Cornu, David D; Costes, Bruno B; Chevalier, Benoit B; Tondelier, Danielle D; Girodon, Emmanuelle E; Coupet, Matthieu M; Edelman, Aleksander A; Fanen, Pascale P; Namy, Olivier O; Sermet-Gaudelus, Isabelle I; Hinzpeter, Alexandre A
Publication Date: 2018-01
Variant appearance in text: CFTR: Glu60Tyr
PubMed Link:
29497617
Variant Present in the following documents:
Main text
00080-2017_supp.pdf
00080-2017.pdf
View BVdb publication page