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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SGMS2

Variant:p.P73R

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SGMS2

NM_001375905.1:p.P73R

hg38:chr4:107895771 C>G

Associated Papers

An ARHGAP25 variant links aberrant Rac1 function to early-onset skeletal fragility.

Mäkitie RE et al.

Jbmr Plus, 2021

34258505 (PubMed )

Supplement: JBM4-5-e10509-s001.docx

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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."