Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.K218N
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RUNX2

NM_001024630.4:p.K218N

Associated Papers

Functional impact of pathogenic mutations in the Runt homology domain of mouse Runx2 on skeletal and dental phenotypes in cleidocranial dysplasia.

Ogawa S et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025

Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.

Hordyjewska-Kowalczyk E et al.

Clinical Genetics, 2019

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

Ott CE et al.

Human Mutation, 2010

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