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.




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