Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP691184.RACNNCAc_lr4AMVTeUKo8cj_TLqGMvUdGBi6uvOH38bmI130_assertion> ?p ?o ?g. }
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- NP691184.RACNNCAc_lr4AMVTeUKo8cj_TLqGMvUdGBi6uvOH38bmI130_assertion type Assertion NP691184.RACNNCAc_lr4AMVTeUKo8cj_TLqGMvUdGBi6uvOH38bmI130_head.
- NP691184.RACNNCAc_lr4AMVTeUKo8cj_TLqGMvUdGBi6uvOH38bmI130_assertion description "[The Portuguese type of familial amyloid polyneuropathy (FAP type I), a disabling autosomal dominant disorder with onset in early adult life, is caused by a point mutation in the transthyretin (TTR; previously known as prealbumin) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP691184.RACNNCAc_lr4AMVTeUKo8cj_TLqGMvUdGBi6uvOH38bmI130_provenance.
- NP691184.RACNNCAc_lr4AMVTeUKo8cj_TLqGMvUdGBi6uvOH38bmI130_assertion evidence source_evidence_literature NP691184.RACNNCAc_lr4AMVTeUKo8cj_TLqGMvUdGBi6uvOH38bmI130_provenance.
- NP691184.RACNNCAc_lr4AMVTeUKo8cj_TLqGMvUdGBi6uvOH38bmI130_assertion SIO_000772 2564060 NP691184.RACNNCAc_lr4AMVTeUKo8cj_TLqGMvUdGBi6uvOH38bmI130_provenance.
- NP691184.RACNNCAc_lr4AMVTeUKo8cj_TLqGMvUdGBi6uvOH38bmI130_assertion wasDerivedFrom befree-20140225 NP691184.RACNNCAc_lr4AMVTeUKo8cj_TLqGMvUdGBi6uvOH38bmI130_provenance.
- NP691184.RACNNCAc_lr4AMVTeUKo8cj_TLqGMvUdGBi6uvOH38bmI130_assertion wasGeneratedBy ECO_0000203 NP691184.RACNNCAc_lr4AMVTeUKo8cj_TLqGMvUdGBi6uvOH38bmI130_provenance.