Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1084164.RA7Ue5rSnxYJVCzNGeZpFPnkGSGZc4ilpdpL4luZdzIwY#assertion> ?p ?o ?g. }
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- assertion description "[Familial amyloid polyneuropathy (FAP), Portuguese type, is a late onset, high penetrance, autosomal dominant Mendelian disorder caused by a V30M substitution in the transthyretin (TTR) protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 15949223 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.