Associated Papers
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
38713862 (PubMed )
Supplement: baae031_supp.zip › suppl_data › Database_Orlic_Milacic_Reactome_of_Disease_Variants_SupplementaryTable1.docx
A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review.
Xue Y et al.
Molecular Genetics & Genomic Medicine, 2023
ALG1-CDG: A Patient with a Mild Phenotype and Literature Review.
Öncül Ü et al.
Molecular Syndromology, 2022
ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.
González-Domínguez CA et al.
Frontiers in Genetics, 2021
Identification and characterization of transcriptional control region of the human beta 1,4-mannosyltransferase gene.
Takahashi T et al.
Cytotechnology, 2017
Quantitative study of yeast Alg1 beta-1, 4 mannosyltransferase activity, a key enzyme involved in protein N-glycosylation.
Li ST et al.
Biochimica Et Biophysica Acta. General Subjects, 2017
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.
Dupré T et al.
Journal of Medical Genetics, 2010
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