Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.S124W
Back to variants list

RUNX2

NM_001024630.4:p.S124W

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

National Rapid Genome Sequencing in Neonatal Intensive Care.

Marom D et al.

Jama Network Open, 2024

38386321 (PubMed )
Supplement: jamanetwopen-e240146-s002.xlsx › eTable_2

Identification of a familial cleidocranial dysplasia with a novel RUNX2 mutation and establishment of patient-derived induced pluripotent stem cells.

Hamada A et al.

Odontology, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."