Varaico: Literature-Extracted Genetic Variants

Gene:PMM1
Variant:p.N218D
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PMM1

NM_002676.3:p.N218D

Associated Papers

A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG.

Citro V et al.

Plos One, 2017

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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."