Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.D129N
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SERPINC1

NM_000488.4:p.D129N

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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