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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSD17B10

Variant:p.R252insFs

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HSD17B10

NM_004493.3:p.R252insFs

hg38:chrX:53431435 C>CGA

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."