Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.Q209R
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RUNX2

NM_001024630.4:p.Q209R

Associated Papers

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.

Ma D et al.

Medicine, 2018

30095610 (PubMed )
Supplement: medi-97-e11328-s001.doc

Core binding factor β of osteoblasts maintains cortical bone mass via stabilization of Runx2 in mice.

Lim KE et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

Ott CE et al.

Human Mutation, 2010

Perspectives on RUNX genes: an update.

Cohen MM

American Journal of Medical Genetics. Part A, 2009

Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.

Cunningham ML et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2006

Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.

Otto F et al.

Human Mutation, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."