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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DBT

Variant:p.F40I

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DBT

NM_001918.5:p.F40I

hg38:chr1:100240818 A>T

Associated Papers

A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.

Garapati K et al.

Jci Insight, 2024

38587076 (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."