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- source_evidence_literature type ECO_0000212 NP1238861.RA0aWDbYp0hryhC_ELTNw9Yl9fmgzO-GK0PlD2m--84aI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1238861.RA0aWDbYp0hryhC_ELTNw9Yl9fmgzO-GK0PlD2m--84aI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1238861.RA0aWDbYp0hryhC_ELTNw9Yl9fmgzO-GK0PlD2m--84aI130_provenance.
- NP1238861.RA0aWDbYp0hryhC_ELTNw9Yl9fmgzO-GK0PlD2m--84aI130_assertion description "[A variant of cystatin C lacking the first NH2-terminal residues and having one amino acid substitution at position 68 forms amyloid deposits mainly in the walls of brain arteries, causing fatal strokes in Icelandic patients with familial cerebral hemorrhage secondary to a form of an autosomal dominant amyloidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1238861.RA0aWDbYp0hryhC_ELTNw9Yl9fmgzO-GK0PlD2m--84aI130_provenance.
- NP1238861.RA0aWDbYp0hryhC_ELTNw9Yl9fmgzO-GK0PlD2m--84aI130_assertion evidence source_evidence_literature NP1238861.RA0aWDbYp0hryhC_ELTNw9Yl9fmgzO-GK0PlD2m--84aI130_provenance.
- NP1238861.RA0aWDbYp0hryhC_ELTNw9Yl9fmgzO-GK0PlD2m--84aI130_assertion SIO_000772 2541223 NP1238861.RA0aWDbYp0hryhC_ELTNw9Yl9fmgzO-GK0PlD2m--84aI130_provenance.
- NP1238861.RA0aWDbYp0hryhC_ELTNw9Yl9fmgzO-GK0PlD2m--84aI130_assertion wasDerivedFrom befree-2016 NP1238861.RA0aWDbYp0hryhC_ELTNw9Yl9fmgzO-GK0PlD2m--84aI130_provenance.
- NP1238861.RA0aWDbYp0hryhC_ELTNw9Yl9fmgzO-GK0PlD2m--84aI130_assertion wasGeneratedBy ECO_0000203 NP1238861.RA0aWDbYp0hryhC_ELTNw9Yl9fmgzO-GK0PlD2m--84aI130_provenance.
- befree-2016 importedOn "2016-02-19" NP1238861.RA0aWDbYp0hryhC_ELTNw9Yl9fmgzO-GK0PlD2m--84aI130_provenance.