Varaico: Literature-Extracted Genetic Variants

Gene:MPI
Variant:p.R56insFs
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MPI

NM_002435.3:p.R56insFs

Associated Papers

Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia.

Luo C et al.

Molecular Genetics and Metabolism Reports, 2024

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

Schollen E et al.

Human Mutation, 2000

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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."