Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP385755.RAKlXXkIoPMbHwsl7wPuzKZ6wlH1KIdIPkMZtNlcLA4XU130_assertion> ?p ?o ?g. }
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- NP385755.RAKlXXkIoPMbHwsl7wPuzKZ6wlH1KIdIPkMZtNlcLA4XU130_assertion type Assertion NP385755.RAKlXXkIoPMbHwsl7wPuzKZ6wlH1KIdIPkMZtNlcLA4XU130_head.
- NP385755.RAKlXXkIoPMbHwsl7wPuzKZ6wlH1KIdIPkMZtNlcLA4XU130_assertion description "[Hereditary spastic paraplegia type 6 (SPG6) is caused by mutations in the NIPA1 gene, this is a rare cause of HSP, until now, all the affected individuals reported displayed `pure` spastic paraplegia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP385755.RAKlXXkIoPMbHwsl7wPuzKZ6wlH1KIdIPkMZtNlcLA4XU130_provenance.
- NP385755.RAKlXXkIoPMbHwsl7wPuzKZ6wlH1KIdIPkMZtNlcLA4XU130_assertion evidence source_evidence_literature NP385755.RAKlXXkIoPMbHwsl7wPuzKZ6wlH1KIdIPkMZtNlcLA4XU130_provenance.
- NP385755.RAKlXXkIoPMbHwsl7wPuzKZ6wlH1KIdIPkMZtNlcLA4XU130_assertion SIO_000772 21419568 NP385755.RAKlXXkIoPMbHwsl7wPuzKZ6wlH1KIdIPkMZtNlcLA4XU130_provenance.
- NP385755.RAKlXXkIoPMbHwsl7wPuzKZ6wlH1KIdIPkMZtNlcLA4XU130_assertion wasDerivedFrom befree-20140225 NP385755.RAKlXXkIoPMbHwsl7wPuzKZ6wlH1KIdIPkMZtNlcLA4XU130_provenance.
- NP385755.RAKlXXkIoPMbHwsl7wPuzKZ6wlH1KIdIPkMZtNlcLA4XU130_assertion wasGeneratedBy ECO_0000203 NP385755.RAKlXXkIoPMbHwsl7wPuzKZ6wlH1KIdIPkMZtNlcLA4XU130_provenance.