Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.P373delFs
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RUNX2

NM_001024630.4:p.P373delFs

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.

Novel Mutation of Cleidocranial Dysplasia-related Frameshift Runt-related Transcription Factor 2 in a Sporadic Chinese Case.

Qin XY et al.

Chinese Medical Journal, 2017

Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.

Jaruga A et al.

Clinical Genetics, 2016

RUNX2 mutations in cleidocranial dysplasia.

Lee KE et al.

Genetics and Molecular Research : Gmr, 2013

RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia.

Lin WD et al.

Genetics and Molecular Biology, 2011

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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."