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CFTR c.1129_1130delinsGC ;(p.K377A)
Variant ID: 7-117182082-AA-GC
NM_000492.3(
CFTR
):c.1129_1130delinsGC;(p.K377A)
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:
Optimized purification of a heterodimeric ABC transporter in a highly stable form amenable to 2-D crystallization.
Plos One
Galián, Carmen C; Manon, Florence F; Dezi, Manuela M; Torres, Cristina C; Ebel, Christine C; Lévy, Daniel D; Jault, Jean-Michel JM
Publication Date: 2011
Variant appearance in text: CFTR: K377A
PubMed Link:
21602923
Variant Present in the following documents:
Main text
pone.0019677.pdf
View BVdb publication page