Varaico: Literature-Extracted Genetic Variants

Gene:PGM1
Variant:p.S42N
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PGM1

NM_002633.3:p.S42N

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

Destabilization and Degradation of a Disease-Linked PGM1 Protein Variant.

Gouliaev F et al.

Biochemistry, 2024

38743592 (PubMed )
Supplement: bi4c00042_si_002.xlsx › Sheet1

Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series.

Radenkovic S et al.

Therapeutic Advances in Rare Disease, 0

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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."