Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.V517delFs
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RUNX2

NM_001024630.4:p.V517delFs

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.

New Genetic Variants of RUNX2 in Mexican Families Cause Cleidocranial Dysplasia.

Toral López J et al.

Biology, 2024

Functional consequences of C-terminal mutations in RUNX2.

Thaweesapphithak S et al.

Scientific Reports, 2023

Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia.

Gong L et al.

Genes & Genomics, 2022

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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."