Associated Papers
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
Ziburová J et al.
American Journal of Medical Genetics. Part A, 2021
34467644 (PubMed )
Supplement: AJMG-185-3494-s003.xlsx › FINAL
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype.
Nicotera AG et al.
Molecular Syndromology, 2021
ALG12-CDG: novel glycophenotype insights endorse the molecular defect.
Sturiale L et al.
Glycoconjugate Journal, 2019
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