Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.E54fs
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PMM2

NM_000303.3:p.E54fs

Associated Papers

Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study.

Witters P et al.

Orphanet Journal of Rare Diseases, 2021

33632285 (PubMed )
Supplement: 13023_2021_1751_MOESM1_ESM.xlsx › Raw_data
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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."