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
Familial idiopathic pulmonary fibrosis in a young female.
Sritharan SS et al.
Respiratory Medicine Case Reports, 2018
Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome.
Chen P et al.
Investigative Ophthalmology & Visual Science, 2014
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