Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP835562.RAMNdLrv-6NK20Fh0yATuuwjal62IdV96x1yjjQsaT7To130_assertion> ?p ?o ?g. }
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- NP835562.RAMNdLrv-6NK20Fh0yATuuwjal62IdV96x1yjjQsaT7To130_assertion type Assertion NP835562.RAMNdLrv-6NK20Fh0yATuuwjal62IdV96x1yjjQsaT7To130_head.
- NP835562.RAMNdLrv-6NK20Fh0yATuuwjal62IdV96x1yjjQsaT7To130_assertion description "[Mutations in the ARX gene have been found in X-linked infantile spasms syndrome, Partington syndrome (mental retardation with dystonic movements of the hands), X-linked lissencephaly with abnormal genitalia, X-linked myoclonus epilepsy with spasticity and intellectual disability, and in nonsyndromic X-linked mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP835562.RAMNdLrv-6NK20Fh0yATuuwjal62IdV96x1yjjQsaT7To130_provenance.
- NP835562.RAMNdLrv-6NK20Fh0yATuuwjal62IdV96x1yjjQsaT7To130_assertion evidence source_evidence_literature NP835562.RAMNdLrv-6NK20Fh0yATuuwjal62IdV96x1yjjQsaT7To130_provenance.
- NP835562.RAMNdLrv-6NK20Fh0yATuuwjal62IdV96x1yjjQsaT7To130_assertion SIO_000772 17641262 NP835562.RAMNdLrv-6NK20Fh0yATuuwjal62IdV96x1yjjQsaT7To130_provenance.
- NP835562.RAMNdLrv-6NK20Fh0yATuuwjal62IdV96x1yjjQsaT7To130_assertion wasDerivedFrom befree-20150227 NP835562.RAMNdLrv-6NK20Fh0yATuuwjal62IdV96x1yjjQsaT7To130_provenance.
- NP835562.RAMNdLrv-6NK20Fh0yATuuwjal62IdV96x1yjjQsaT7To130_assertion wasGeneratedBy ECO_0000203 NP835562.RAMNdLrv-6NK20Fh0yATuuwjal62IdV96x1yjjQsaT7To130_provenance.