Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.G192R
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RUNX2

NM_001024630.4:p.G192R

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM6_ESM.xlsx › Sheet1

Identification of RUNX2 variants associated with cleidocranial dysplasia.

Gao X et al.

Hereditas, 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

Functional analysis of a novel RUNX2 missense mutation found in a family with cleidocranial dysplasia.

Puppin C et al.

Journal of Human Genetics, 2005

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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."