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RUNX2 c.427G>T ;(p.V143L)
Variant ID: 6-45399603-G-T
NM_001024630.3(
RUNX2
):c.427G>T;(p.V143L)
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 and kinetic effects on changes in the CO(2) binding pocket of human carbonic anhydrase II.
Biochemistry
West, Dayne D; Kim, Chae Un CU; Tu, Chingkuang C; Robbins, Arthur H AH; Gruner, Sol M SM; Silverman, David N DN; McKenna, Robert R
Publication Date: 2012-11-13
Variant appearance in text: CCD: V143L
PubMed Link:
23098192
Variant Present in the following documents:
Main text
View BVdb publication page