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CFTR c.918T>C ;(p.N306=)
Variant ID: 7-117180202-T-C
NM_000492.3(
CFTR
):c.918T>C;(p.N306=)
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:
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.
European Journal Of Human Genetics : Ejhg
Publication Date: 2020-12
Variant appearance in text: CFTR: 918T>C
PubMed Link:
33262486
Variant Present in the following documents:
Main text
41431_2020_Article_741.pdf
View BVdb publication page
Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator.
Cellular & Molecular Biology Letters
Bartoszewski, Rafal R; Króliczewski, Jaroslaw J; Piotrowski, Arkadiusz A; Jasiecka, Anna Janaszak AJ; Bartoszewska, Sylwia S; Vecchio-Pagan, Briana B; Fu, Lianwu L; Sobolewska, Aleksandra A; Matalon, Sadis S; Cutting, Garry R GR; Rowe, Steven M SM; Collawn, James F JF
Publication Date: 2016
Variant appearance in text: rs200046355
PubMed Link:
28536625
Variant Present in the following documents:
11658_2016_25_MOESM6_ESM.xlsx, sheet 1
11658_2016_25_MOESM3_ESM.xlsx, sheet 1
11658_2016_25_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page