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CFTR c.3253C>T ;(p.H1085Y)
Variant ID: 7-117251748-C-T
NM_000492.3(
CFTR
):c.3253C>T;(p.H1085Y)
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:
Transcription rate strongly affects splicing fidelity and cotranscriptionality in budding yeast.
Genome Research
Aslanzadeh, Vahid V; Huang, Yuanhua Y; Sanguinetti, Guido G; Beggs, Jean D JD
Publication Date: 2018-02
Variant appearance in text: CFTR: H1085Y
PubMed Link:
29254943
Variant Present in the following documents:
Main text
203.pdf
View BVdb publication page
Pre-mRNA splicing is facilitated by an optimal RNA polymerase II elongation rate.
Genes & Development
Fong, Nova N; Kim, Hyunmin H; Zhou, Yu Y; Ji, Xiong X; Qiu, Jinsong J; Saldi, Tassa T; Diener, Katrina K; Jones, Ken K; Fu, Xiang-Dong XD; Bentley, David L DL
Publication Date: 2014-12-01
Variant appearance in text: CFTR: H1085Y
PubMed Link:
25452276
Variant Present in the following documents:
Main text
2663.pdf
View BVdb publication page