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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HMGCS1

Variant:p.Q272*

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HMGCS1

NM_001098272.3:p.Q272*

hg38:chr5:43295843 G>A

Associated Papers

Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.

Fukao T et al.

Journal of Human Genetics, 2019

30393371 (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."