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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SGMS2

Variant:p.D276E

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SGMS2

NM_001375905.1:p.D276E

hg38:chr4:107908665 T>G

Associated Papers

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.

Pekkinen M et al.

Jci Insight, 2019

30779713 (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."