Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_assertion> ?p ?o ?g. }
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- NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_assertion type Assertion NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_head.
- NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_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." NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_provenance.
- NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_assertion evidence source_evidence_literature NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_provenance.
- NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_assertion SIO_000772 2541223 NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_provenance.
- NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_assertion wasDerivedFrom befree-20150227 NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_provenance.
- NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_assertion wasGeneratedBy ECO_0000203 NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_provenance.