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RUNX2 c.817G>A ;(p.A273T)
Variant ID: 6-45459809-G-A
NM_001024630.3(
RUNX2
):c.817G>A;(p.A273T)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
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dbSNP
Publications:
Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review.
Medicine
Ma, Dan D; Wang, Xuxia X; Guo, Jun J; Zhang, Jun J; Cai, Tao T
Publication Date: 2018-08
Variant appearance in text: RUNX2: 817G>A
PubMed Link:
30095610
Variant Present in the following documents:
View BVdb publication page
The spindle assembly function of Caenorhabditis elegans katanin does not require microtubule-severing activity.
Molecular Biology Of The Cell
McNally, Karen Perry KP; McNally, Francis J FJ
Publication Date: 2011-05
Variant appearance in text: CCD: A273T
PubMed Link:
21372175
Variant Present in the following documents:
Main text
1550.pdf
View BVdb publication page