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CFTR c.4034T>C ;(p.V1345A)
Variant ID: 7-117304812-T-C
NM_000492.3(
CFTR
):c.4034T>C;(p.V1345A)
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:
A mutation in intracellular loop 4 affects the drug-efflux activity of the yeast multidrug resistance ABC transporter Pdr5p.
Plos One
Guo, Xiaoxian X; Li, Jingkai J; Wang, Tanjun T; Liu, Zhenhua Z; Chen, Xin X; Li, Yudong Y; Gu, Zhenglong Z; Mao, Xuming X; Guan, Wenjun W; Li, Yongquan Y
Publication Date: 2012
Variant appearance in text: CFTR: V1345A
PubMed Link:
22238618
Variant Present in the following documents:
Main text
pone.0029520.pdf
View BVdb publication page