Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.P373insFs
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RUNX2

NM_001024630.4:p.P373insFs

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.

Functional consequences of C-terminal mutations in RUNX2.

Thaweesapphithak S et al.

Scientific Reports, 2023

The effect of the cleidocranial dysplasia-related novel 1116_1119insC mutation in the RUNX2 gene on the biological function of mesenchymal cells.

Ding B et al.

European Journal of Medical Genetics, 2013

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