Varaico: Literature-Extracted Genetic Variants

Gene:MPI
Variant:p.Y129C
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MPI

NM_002435.3:p.Y129C

Associated Papers

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

Luo C et al.

Molecular Genetics and Metabolism Reports, 2024

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

DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).

Schollen E et al.

European Journal of Human Genetics : Ejhg, 2002

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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."