Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.E112*
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RUNX2

NM_001024630.4:p.E112*

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

A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia.

Jung YJ et al.

Journal of Cellular Biochemistry, 2018

Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype.

Kim HJ et al.

Journal of Cellular Physiology, 2006

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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."