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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSD17B10

Variant:p.N243_P244insFs

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HSD17B10

NM_004493.3:p.N243_P244insFs

hg38:chrX:53431461 G>GAA

Associated Papers

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.

Zhang R et al.

Scientific Reports, 2021

33514801 (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."