Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.R225L
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RUNX2

NM_001024630.4:p.R225L

Associated Papers

RUNX2 mutation impairs osteogenic differentiation of dental follicle cells.

Liu Y et al.

Archives of Oral Biology, 2019

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

Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.

Jaruga A et al.

Clinical Genetics, 2016

RUNX2 analysis of Danish cleidocranial dysplasia families.

Hansen L et al.

Clinical Genetics, 2011

Mutational analysis of RUNX2 gene in Chinese patients with cleidocranial dysplasia.

Zhang C et al.

Mutagenesis, 2010

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

Ott CE et al.

Human Mutation, 2010

Novel RUNX2 mutations in Chinese individuals with cleidocranial dysplasia.

Zhang CY et al.

Journal of Dental Research, 2009

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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."