Varaico: Literature-Extracted Genetic Variants

Gene:PGM1
Variant:p.Q533*
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PGM1

NM_002633.3:p.Q533*

Associated Papers

Coagulation abnormalities and vascular complications are common in PGM1-CDG.

Radenkovic S et al.

Molecular Genetics and Metabolism, 2024

38968673 (PubMed )
Supplement: NIHMS2125712-supplement-Supplementary_material.xlsx › Sup_Tab_1

The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers.

Kruijt N et al.

European Journal of Neurology, 2021

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.

Abu Bakar N et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2018

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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."