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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SGMS2

Variant:p.Y351_G358insFs

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SGMS2

NM_001375905.1:p.Y351_G358insFs

hg38:chr4:107910504 A>AGTATTCACGGGTTCAGAAGATTG

Associated Papers

A novel SGMS2 mutation associated with high bone mass; description of an affected family with recurrent fragility fractures.

Patra S et al.

Bone Reports, 2025

40123745 (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."