Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP748820.RAa8vMuZZNDTysZryWGD8mQBG5KdCdkl-rXkXsnRWbuiE130_assertion> ?p ?o ?g. }
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- NP748820.RAa8vMuZZNDTysZryWGD8mQBG5KdCdkl-rXkXsnRWbuiE130_assertion type Assertion NP748820.RAa8vMuZZNDTysZryWGD8mQBG5KdCdkl-rXkXsnRWbuiE130_head.
- NP748820.RAa8vMuZZNDTysZryWGD8mQBG5KdCdkl-rXkXsnRWbuiE130_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." NP748820.RAa8vMuZZNDTysZryWGD8mQBG5KdCdkl-rXkXsnRWbuiE130_provenance.
- NP748820.RAa8vMuZZNDTysZryWGD8mQBG5KdCdkl-rXkXsnRWbuiE130_assertion evidence source_evidence_literature NP748820.RAa8vMuZZNDTysZryWGD8mQBG5KdCdkl-rXkXsnRWbuiE130_provenance.
- NP748820.RAa8vMuZZNDTysZryWGD8mQBG5KdCdkl-rXkXsnRWbuiE130_assertion SIO_000772 15376319 NP748820.RAa8vMuZZNDTysZryWGD8mQBG5KdCdkl-rXkXsnRWbuiE130_provenance.
- NP748820.RAa8vMuZZNDTysZryWGD8mQBG5KdCdkl-rXkXsnRWbuiE130_assertion wasDerivedFrom befree-20140225 NP748820.RAa8vMuZZNDTysZryWGD8mQBG5KdCdkl-rXkXsnRWbuiE130_provenance.
- NP748820.RAa8vMuZZNDTysZryWGD8mQBG5KdCdkl-rXkXsnRWbuiE130_assertion wasGeneratedBy ECO_0000203 NP748820.RAa8vMuZZNDTysZryWGD8mQBG5KdCdkl-rXkXsnRWbuiE130_provenance.