Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1215477.RAAsKs3xU1BfIhzx3g5LSryk5WvdYm2OeLysXKZ7n7p6c130_assertion> ?p ?o ?g. }
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- NP1215477.RAAsKs3xU1BfIhzx3g5LSryk5WvdYm2OeLysXKZ7n7p6c130_assertion type Assertion NP1215477.RAAsKs3xU1BfIhzx3g5LSryk5WvdYm2OeLysXKZ7n7p6c130_head.
- NP1215477.RAAsKs3xU1BfIhzx3g5LSryk5WvdYm2OeLysXKZ7n7p6c130_assertion description "[Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M233T responsible for Alzheimer's disease in a large Italian family, as well as SOD1 p.A4V and p.I113T in patients with amyotrophic lateral sclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1215477.RAAsKs3xU1BfIhzx3g5LSryk5WvdYm2OeLysXKZ7n7p6c130_provenance.
- NP1215477.RAAsKs3xU1BfIhzx3g5LSryk5WvdYm2OeLysXKZ7n7p6c130_assertion evidence source_evidence_literature NP1215477.RAAsKs3xU1BfIhzx3g5LSryk5WvdYm2OeLysXKZ7n7p6c130_provenance.
- NP1215477.RAAsKs3xU1BfIhzx3g5LSryk5WvdYm2OeLysXKZ7n7p6c130_assertion SIO_000772 25174650 NP1215477.RAAsKs3xU1BfIhzx3g5LSryk5WvdYm2OeLysXKZ7n7p6c130_provenance.
- NP1215477.RAAsKs3xU1BfIhzx3g5LSryk5WvdYm2OeLysXKZ7n7p6c130_assertion wasDerivedFrom befree-2016 NP1215477.RAAsKs3xU1BfIhzx3g5LSryk5WvdYm2OeLysXKZ7n7p6c130_provenance.
- NP1215477.RAAsKs3xU1BfIhzx3g5LSryk5WvdYm2OeLysXKZ7n7p6c130_assertion wasGeneratedBy ECO_0000203 NP1215477.RAAsKs3xU1BfIhzx3g5LSryk5WvdYm2OeLysXKZ7n7p6c130_provenance.