Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.G146R
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RUNX2

NM_001024630.4:p.G146R

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

Cleidocranial Dysplasia with Normal Clavicles: A Report of a Novel Genotype and a Review of Seven Previous Cases.

Singh A et al.

Molecular Syndromology, 2015

[Cleidocranial dysplasia. Description and analysis of a patient cohort].

Baumert U et al.

Mund-, Kiefer- Und Gesichtschirurgie : Mkg, 2006

[Inter- and intrafamilial expression of cleidocranial dysostosis].

Golan I et al.

L' Orthodontie Francaise, 2003

Evidence of intrafamilial variability of CBFA1/RUNX2 expression in cleidocranial dysplasia--a family study.

Golan I et al.

Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopadie : Organ/official Journal Deutsche Gesellschaft Fur Kieferorthopadie, 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."