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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RUNX2

Variant:p.S124*

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RUNX2

NM_001024630.4:p.S124*

hg38:chr6:45422905 C>A

Associated Papers

Newborn with isolated severe deficiency of cranial vault ossification: a case of cleidocranial dysplasia.

Borelli E et al.

Archives of Disease in Childhood. Fetal and Neonatal Edition, 2024

37433588 (PubMed )

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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."