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- source_evidence_literature type ECO_0000212 NP294209.RAN3v7L0Lk-n4Z787ajj23PkAaXpOdlrdfcZ5l5tKcGKo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP294209.RAN3v7L0Lk-n4Z787ajj23PkAaXpOdlrdfcZ5l5tKcGKo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP294209.RAN3v7L0Lk-n4Z787ajj23PkAaXpOdlrdfcZ5l5tKcGKo130_provenance.
- NP294209.RAN3v7L0Lk-n4Z787ajj23PkAaXpOdlrdfcZ5l5tKcGKo130_assertion description "[Familial amyloidotic polyneuropathy (FAP) type I, the most common dominantly inherited form of amyloidosis, is caused by a Val-to-Met point mutation at position 30 (Val(30)-->Met) in the protein transthyretin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP294209.RAN3v7L0Lk-n4Z787ajj23PkAaXpOdlrdfcZ5l5tKcGKo130_provenance.
- NP294209.RAN3v7L0Lk-n4Z787ajj23PkAaXpOdlrdfcZ5l5tKcGKo130_assertion evidence source_evidence_literature NP294209.RAN3v7L0Lk-n4Z787ajj23PkAaXpOdlrdfcZ5l5tKcGKo130_provenance.
- NP294209.RAN3v7L0Lk-n4Z787ajj23PkAaXpOdlrdfcZ5l5tKcGKo130_assertion SIO_000772 10973857 NP294209.RAN3v7L0Lk-n4Z787ajj23PkAaXpOdlrdfcZ5l5tKcGKo130_provenance.
- NP294209.RAN3v7L0Lk-n4Z787ajj23PkAaXpOdlrdfcZ5l5tKcGKo130_assertion wasDerivedFrom befree-2016 NP294209.RAN3v7L0Lk-n4Z787ajj23PkAaXpOdlrdfcZ5l5tKcGKo130_provenance.
- NP294209.RAN3v7L0Lk-n4Z787ajj23PkAaXpOdlrdfcZ5l5tKcGKo130_assertion wasGeneratedBy ECO_0000203 NP294209.RAN3v7L0Lk-n4Z787ajj23PkAaXpOdlrdfcZ5l5tKcGKo130_provenance.
- befree-2016 importedOn "2016-02-19" NP294209.RAN3v7L0Lk-n4Z787ajj23PkAaXpOdlrdfcZ5l5tKcGKo130_provenance.