Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.S172fs
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RUNX2

NM_001024630.4:p.S172fs

Associated Papers

RUNX2 mutation impairs bone remodelling of dental follicle cells and periodontal ligament cells in patients with cleidocranial dysplasia.

Sun X et al.

Mutagenesis, 2016

RUNX2 Mutation Impairs 1α,25-Dihydroxyvitamin D3 mediated Osteoclastogenesis in Dental Follicle Cells.

Wang XZ et al.

Scientific Reports, 2016

Abnormal differentiation of dental pulp cells in cleidocranial dysplasia.

Yan WJ et al.

Journal of Dental Research, 2015

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

Zhang C et al.

Mutagenesis, 2010

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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."