Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_assertion> ?p ?o ?g. }
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- NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_assertion type Assertion NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_head.
- NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_assertion description "[Mutations in the human ARX gene show unusually heterogeneous clinical presentations, including syndromic and nonsyndromic mental retardation, myoclonic epilepsy with spasticity, and lissencephaly with abnormal genitalia, that are believed to arise from an impairment of the embryonic mechanisms building the anterior central nervous system structures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_provenance.
- NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_assertion evidence source_evidence_literature NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_provenance.
- NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_assertion SIO_000772 15376319 NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_provenance.
- NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_assertion wasDerivedFrom befree-20140225 NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_provenance.
- NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_assertion wasGeneratedBy ECO_0000203 NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_provenance.