Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1217393.RANuVVrL2QT0LlLk5vagC3uGVqQKDYdSRLQHcygXiS6Qw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1217393.RANuVVrL2QT0LlLk5vagC3uGVqQKDYdSRLQHcygXiS6Qw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1217393.RANuVVrL2QT0LlLk5vagC3uGVqQKDYdSRLQHcygXiS6Qw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1217393.RANuVVrL2QT0LlLk5vagC3uGVqQKDYdSRLQHcygXiS6Qw130_provenance.
- NP1217393.RANuVVrL2QT0LlLk5vagC3uGVqQKDYdSRLQHcygXiS6Qw130_assertion description "[We describe a 12-year-old boy with neonatal onset of extremely severe complicated spastic paraplegia 3A associated with a de novo c.1226G>A (p.G409D) mutation in ATL1, a gene which encodes atlatsin GTPase 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1217393.RANuVVrL2QT0LlLk5vagC3uGVqQKDYdSRLQHcygXiS6Qw130_provenance.
- NP1217393.RANuVVrL2QT0LlLk5vagC3uGVqQKDYdSRLQHcygXiS6Qw130_assertion evidence source_evidence_literature NP1217393.RANuVVrL2QT0LlLk5vagC3uGVqQKDYdSRLQHcygXiS6Qw130_provenance.
- NP1217393.RANuVVrL2QT0LlLk5vagC3uGVqQKDYdSRLQHcygXiS6Qw130_assertion SIO_000772 25193411 NP1217393.RANuVVrL2QT0LlLk5vagC3uGVqQKDYdSRLQHcygXiS6Qw130_provenance.
- NP1217393.RANuVVrL2QT0LlLk5vagC3uGVqQKDYdSRLQHcygXiS6Qw130_assertion wasDerivedFrom befree-2016 NP1217393.RANuVVrL2QT0LlLk5vagC3uGVqQKDYdSRLQHcygXiS6Qw130_provenance.
- NP1217393.RANuVVrL2QT0LlLk5vagC3uGVqQKDYdSRLQHcygXiS6Qw130_assertion wasGeneratedBy ECO_0000203 NP1217393.RANuVVrL2QT0LlLk5vagC3uGVqQKDYdSRLQHcygXiS6Qw130_provenance.
- befree-2016 importedOn "2016-02-19" NP1217393.RANuVVrL2QT0LlLk5vagC3uGVqQKDYdSRLQHcygXiS6Qw130_provenance.