Varaico: Literature-Extracted Genetic Variants

Gene:ENDOU
Variant:p.P184T
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ENDOU

NM_001172439.2:p.P184T

Associated Papers

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.

Vega AI et al.

Journal of Inherited Metabolic Disease, 2011

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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."