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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AKR1D1

Variant:p.Q193_V194Splc

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AKR1D1

NM_005989.4:p.Q193_V194Splc

hg38:chr7:138106607 G>A

Associated Papers

The effectiveness of correcting abnormal metabolic profiles.

Clayton PT

Journal of Inherited Metabolic Disease, 2020

31222759 (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."