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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RUNX2

Variant:p.W518G

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RUNX2

NM_001024630.4:p.W518G

hg38:chr6:45547291 T>G

Associated Papers

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

Gong L et al.

Genes & Genomics, 2022

35235174 (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."