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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HMGCS2

Variant:p.S182insFs

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HMGCS2

NM_005518.4:p.S182insFs

hg38:chr1:119764184 T>TG

Associated Papers

Inborn Errors of Ketogenesis: Novel Variants, Clinical Presentation, and Follow-Up in a Series of Four Patients.

Sait H et al.

Journal of Pediatric Genetics, 2024

38567177 (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."