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RUNX2 c.427_429delinsAAC ;(p.V143N)
Variant ID: 6-45399603-GTA-AAC
NM_001024630.3(
RUNX2
):c.427_429delinsAAC;(p.V143N)
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:
The active site architecture of Pisum sativum beta-carbonic anhydrase is a mirror image of that of alpha-carbonic anhydrases.
The Embo Journal
Kimber, M S MS; Pai, E F EF
Publication Date: 2000-04-03
Variant appearance in text: CCD: Val143Asn
PubMed Link:
10747009
Variant Present in the following documents:
Main text
View BVdb publication page