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CFTR c.1285_1286inv ;(p.F429N)
Variant ID: 7-117188770-TT-AA
NM_000492.3(
CFTR
):c.1285_1286inv;(p.F429N)
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:
Cooperative assembly and misfolding of CFTR domains in vivo.
Molecular Biology Of The Cell
Du, Kai K; Lukacs, Gergely L GL
Publication Date: 2009-04
Variant appearance in text: CFTR: F429N
PubMed Link:
19176754
Variant Present in the following documents:
Main text
View BVdb publication page