Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.P402insFs
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RUNX2

NM_001024630.4:p.P402insFs

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.

Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report.

Inchingolo AD et al.

Medicina (kaunas, Lithuania), 2021

Dysregulation of chondrogenesis in human cleidocranial dysplasia.

Zheng Q et al.

American Journal of Human Genetics, 2005

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."