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
Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case report.
Ehrstedt C et al.
Neuromuscular Disorders : Nmd, 2022
A patient-based medaka alg2 mutant as a model for hypo-N-glycosylation.
Gücüm S et al.
Development (cambridge, England), 2021
Select a paper to view details