Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.G511S
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RUNX2

NM_001024630.4:p.G511S

Associated Papers

Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis.

Cuellar A et al.

Bone, 2020

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

Jung YJ et al.

Journal of Cellular Biochemistry, 2018

Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.

Jaruga A et al.

Clinical Genetics, 2016

Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes.

Verdyck P et al.

Clinical Genetics, 2006

Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.

Otto F et al.

Human Mutation, 2002

Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.

Quack I et al.

American Journal of Human Genetics, 1999

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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."