Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP498890.RAaVTalYyla6c2f6BlRAQ_dlvxc2YDsuVBWNDJ-42s48I130_assertion> ?p ?o ?g. }
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- NP498890.RAaVTalYyla6c2f6BlRAQ_dlvxc2YDsuVBWNDJ-42s48I130_assertion type Assertion NP498890.RAaVTalYyla6c2f6BlRAQ_dlvxc2YDsuVBWNDJ-42s48I130_head.
- NP498890.RAaVTalYyla6c2f6BlRAQ_dlvxc2YDsuVBWNDJ-42s48I130_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." NP498890.RAaVTalYyla6c2f6BlRAQ_dlvxc2YDsuVBWNDJ-42s48I130_provenance.
- NP498890.RAaVTalYyla6c2f6BlRAQ_dlvxc2YDsuVBWNDJ-42s48I130_assertion evidence source_evidence_literature NP498890.RAaVTalYyla6c2f6BlRAQ_dlvxc2YDsuVBWNDJ-42s48I130_provenance.
- NP498890.RAaVTalYyla6c2f6BlRAQ_dlvxc2YDsuVBWNDJ-42s48I130_assertion SIO_000772 15949223 NP498890.RAaVTalYyla6c2f6BlRAQ_dlvxc2YDsuVBWNDJ-42s48I130_provenance.
- NP498890.RAaVTalYyla6c2f6BlRAQ_dlvxc2YDsuVBWNDJ-42s48I130_assertion wasDerivedFrom befree-2016 NP498890.RAaVTalYyla6c2f6BlRAQ_dlvxc2YDsuVBWNDJ-42s48I130_provenance.
- NP498890.RAaVTalYyla6c2f6BlRAQ_dlvxc2YDsuVBWNDJ-42s48I130_assertion wasGeneratedBy ECO_0000203 NP498890.RAaVTalYyla6c2f6BlRAQ_dlvxc2YDsuVBWNDJ-42s48I130_provenance.