Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1260050.RALTFBRn7drvt2G6aa113XVqV_DOk3PYpuHhHB_n4CkU8130_assertion> ?p ?o ?g. }
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- NP1260050.RALTFBRn7drvt2G6aa113XVqV_DOk3PYpuHhHB_n4CkU8130_assertion type Assertion NP1260050.RALTFBRn7drvt2G6aa113XVqV_DOk3PYpuHhHB_n4CkU8130_head.
- NP1260050.RALTFBRn7drvt2G6aa113XVqV_DOk3PYpuHhHB_n4CkU8130_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." NP1260050.RALTFBRn7drvt2G6aa113XVqV_DOk3PYpuHhHB_n4CkU8130_provenance.
- NP1260050.RALTFBRn7drvt2G6aa113XVqV_DOk3PYpuHhHB_n4CkU8130_assertion evidence source_evidence_literature NP1260050.RALTFBRn7drvt2G6aa113XVqV_DOk3PYpuHhHB_n4CkU8130_provenance.
- NP1260050.RALTFBRn7drvt2G6aa113XVqV_DOk3PYpuHhHB_n4CkU8130_assertion SIO_000772 2564060 NP1260050.RALTFBRn7drvt2G6aa113XVqV_DOk3PYpuHhHB_n4CkU8130_provenance.
- NP1260050.RALTFBRn7drvt2G6aa113XVqV_DOk3PYpuHhHB_n4CkU8130_assertion wasDerivedFrom befree-2016 NP1260050.RALTFBRn7drvt2G6aa113XVqV_DOk3PYpuHhHB_n4CkU8130_provenance.
- NP1260050.RALTFBRn7drvt2G6aa113XVqV_DOk3PYpuHhHB_n4CkU8130_assertion wasGeneratedBy ECO_0000203 NP1260050.RALTFBRn7drvt2G6aa113XVqV_DOk3PYpuHhHB_n4CkU8130_provenance.