Varaico: Literature-Extracted Genetic Variants

Gene:MPI
Variant:p.G281_D282del1
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MPI

NM_002435.3:p.G281_D282del1

Associated Papers

Long term outcome of MPI-CDG patients on D-mannose therapy.

Girard M et al.

Journal of Inherited Metabolic Disease, 2020

Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.

Čechová A et al.

Journal of Inherited Metabolic Disease, 2020

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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."