Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.Y213_H214ins12
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RUNX2

NM_001024630.4:p.Y213_H214ins12

Associated Papers

The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review.

Thaweesapphithak S et al.

Journal of Translational Medicine, 2024

39627759 (PubMed )
Supplement: 12967_2024_5904_MOESM1_ESM.xlsx › Supplement_table_1.

Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.

Jaruga A et al.

Clinical Genetics, 2016

A Glutamine Repeat Variant of the RUNX2 Gene Causes Cleidocranial Dysplasia.

Mastushita M et al.

Molecular Syndromology, 2015

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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."