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CFTR c.573T>A ;(p.F191L)
Variant ID: 7-117174413-T-A
NM_000492.3(
CFTR
):c.573T>A;(p.F191L)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The First Cytoplasmic Loop in the Core Structure of the ABCC1 (Multidrug Resistance Protein 1; MRP1) Transporter Contains Multiple Amino Acids Essential for Its Expression.
International Journal Of Molecular Sciences
Conseil, Gwenaƫlle G; Cole, Susan P C SPC
Publication Date: 2021-09-08
Variant appearance in text: CFTR: Phe191Leu
PubMed Link:
34575890
Variant Present in the following documents:
Main text
ijms-22-09710.pdf
View BVdb publication page