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CFTR c.369A>T ;(p.L123=)
Variant ID: 7-117171048-A-T
NM_000492.3(
CFTR
):c.369A>T;(p.L123=)
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:
Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.
Genome Medicine
Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC
Publication Date: 2022-06-16
Variant appearance in text: CFTR: L123L
PubMed Link:
35706047
Variant Present in the following documents:
13073_2022_1068_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page
Abundant off-target edits from site-directed RNA editing can be reduced by nuclear localization of the editing enzyme.
Rna Biology
Vallecillo-Viejo, Isabel C IC; Liscovitch-Brauer, Noa N; Montiel-Gonzalez, Maria Fernanda MF; Eisenberg, Eli E; Rosenthal, Joshua J C JJC
Publication Date: 2018-01-02
Variant appearance in text: CFTR: L123L
PubMed Link:
29099293
Variant Present in the following documents:
Main text
View BVdb publication page