Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP566418.RAsvbL5Pt_w2rOdHAuyoSVNWiDJPBzDCBspBQLAvw9UcU130_assertion> ?p ?o ?g. }
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- NP566418.RAsvbL5Pt_w2rOdHAuyoSVNWiDJPBzDCBspBQLAvw9UcU130_assertion type Assertion NP566418.RAsvbL5Pt_w2rOdHAuyoSVNWiDJPBzDCBspBQLAvw9UcU130_head.
- NP566418.RAsvbL5Pt_w2rOdHAuyoSVNWiDJPBzDCBspBQLAvw9UcU130_assertion description "[Mutations in the ARX gene, at Xp22.3, cause several disorders, including infantile spasms, X-linked lissencephaly with abnormal genitalia (XLAG), callosal agenesis and isolated intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP566418.RAsvbL5Pt_w2rOdHAuyoSVNWiDJPBzDCBspBQLAvw9UcU130_provenance.
- NP566418.RAsvbL5Pt_w2rOdHAuyoSVNWiDJPBzDCBspBQLAvw9UcU130_assertion evidence source_evidence_literature NP566418.RAsvbL5Pt_w2rOdHAuyoSVNWiDJPBzDCBspBQLAvw9UcU130_provenance.
- NP566418.RAsvbL5Pt_w2rOdHAuyoSVNWiDJPBzDCBspBQLAvw9UcU130_assertion SIO_000772 22585566 NP566418.RAsvbL5Pt_w2rOdHAuyoSVNWiDJPBzDCBspBQLAvw9UcU130_provenance.
- NP566418.RAsvbL5Pt_w2rOdHAuyoSVNWiDJPBzDCBspBQLAvw9UcU130_assertion wasDerivedFrom befree-20140225 NP566418.RAsvbL5Pt_w2rOdHAuyoSVNWiDJPBzDCBspBQLAvw9UcU130_provenance.
- NP566418.RAsvbL5Pt_w2rOdHAuyoSVNWiDJPBzDCBspBQLAvw9UcU130_assertion wasGeneratedBy ECO_0000203 NP566418.RAsvbL5Pt_w2rOdHAuyoSVNWiDJPBzDCBspBQLAvw9UcU130_provenance.