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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMM2

Variant:p.E219K

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PMM2

NM_000303.3:p.E219K

hg38:chr16:8847739 G>A

Associated Papers

Exploring ligand interactions with human phosphomannomutases using recombinant bacterial thermal shift assay and biochemical validation.

Monticelli M et al.

Biochimie, 2024

38458414 (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."