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
Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature.
Mohammadi MF et al.
Irish Journal of Medical Science, 2024
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM6_ESM.xlsx › SD2_-_ExAC_Variants
The molecular basis of aminoacylase 1 deficiency.
Sommer A et al.
Biochimica Et Biophysica Acta, 2011
A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures.
Michelucci R et al.
Neurology, 2007
Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls.
Lohi H et al.
Neurology, 2007
Select a paper to view details