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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RUNX2

Variant:p.G194Splc

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RUNX2

NM_001024630.4:p.G194Splc

hg38:chr6:45437938 T>G

Associated Papers

Whole-exome sequencing identification of a novel splicing mutation of RUNX2 in a Chinese family with cleidocranial dysplasia.

Zhang T et al.

Archives of Oral Biology, 2019

30798031 (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."