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NSF c.2047_2048delinsCC ;(p.L683P)
Variant ID: 17-44828872-TT-CC
NM_006178.3(
NSF
):c.2047_2048delinsCC;(p.L683P)
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:
Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex.
International Journal Of Molecular Sciences
Schieferdecker, Anne A; Wendler, Petra P
Publication Date: 2019-08-01
Variant appearance in text: NSF: L683P
PubMed Link:
31374812
Variant Present in the following documents:
Main text
View BVdb publication page