Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B10
Variant:p.I175T
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HSD17B10

NM_004493.3:p.I175T

Associated Papers

Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.

Brea-Fernández AJ et al.

European Journal of Human Genetics : Ejhg, 2022

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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."