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RUNX2 c.595_596delinsGC ;(p.L199A)
Variant ID: 6-45405698-TT-GC
NM_001024630.3(
RUNX2
):c.595_596delinsGC;(p.L199A)
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:
Point Mutations of Nicotinic Receptor α1 Subunit Reveal New Molecular Features of G153S Slow-Channel Myasthenia.
Molecules (Basel, Switzerland)
Kudryavtsev, Denis D; Isaeva, Anastasia A; Barkova, Daria D; Spirova, Ekaterina E; Mukhutdinova, Renata R; Kasheverov, Igor I; Tsetlin, Victor V
Publication Date: 2021-02-26
Variant appearance in text: CCD: L199A
PubMed Link:
33652901
Variant Present in the following documents:
Main text
molecules-26-01278.pdf
View BVdb publication page