Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP206472.RAjX5nHYTfBlaIDQcHSojFcjpGuygZ7sR9RJdxIVGfnPs130_assertion> ?p ?o ?g. }
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- NP206472.RAjX5nHYTfBlaIDQcHSojFcjpGuygZ7sR9RJdxIVGfnPs130_assertion type Assertion NP206472.RAjX5nHYTfBlaIDQcHSojFcjpGuygZ7sR9RJdxIVGfnPs130_head.
- NP206472.RAjX5nHYTfBlaIDQcHSojFcjpGuygZ7sR9RJdxIVGfnPs130_assertion wasGeneratedBy ECO_0000203 NP206472.RAjX5nHYTfBlaIDQcHSojFcjpGuygZ7sR9RJdxIVGfnPs130_provenance.
- NP206472.RAjX5nHYTfBlaIDQcHSojFcjpGuygZ7sR9RJdxIVGfnPs130_assertion wasDerivedFrom befree-20140225 NP206472.RAjX5nHYTfBlaIDQcHSojFcjpGuygZ7sR9RJdxIVGfnPs130_provenance.
- NP206472.RAjX5nHYTfBlaIDQcHSojFcjpGuygZ7sR9RJdxIVGfnPs130_assertion SIO_000772 21934280 NP206472.RAjX5nHYTfBlaIDQcHSojFcjpGuygZ7sR9RJdxIVGfnPs130_provenance.
- NP206472.RAjX5nHYTfBlaIDQcHSojFcjpGuygZ7sR9RJdxIVGfnPs130_assertion evidence source_evidence_literature NP206472.RAjX5nHYTfBlaIDQcHSojFcjpGuygZ7sR9RJdxIVGfnPs130_provenance.
- NP206472.RAjX5nHYTfBlaIDQcHSojFcjpGuygZ7sR9RJdxIVGfnPs130_assertion description "[Loss-of-function mutations of the MECP2 gene are the cause of most cases of Rett syndrome in females, a progressive neurodevelopmental disorder characterized by severe mental retardation, global regression, hand stereotypies, and microcephaly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP206472.RAjX5nHYTfBlaIDQcHSojFcjpGuygZ7sR9RJdxIVGfnPs130_provenance.