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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HMGCS1

Variant:p.Q29L

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HMGCS1

NM_001098272.3:p.Q29L

hg38:chr5:43298880 T>A

Associated Papers

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

Dofash LNH et al.

Brain : a Journal of Neurology, 2025

39531736 (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."