Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_assertion> ?p ?o ?g. }
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- NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_assertion type Assertion NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_head.
- NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_assertion description "[Aicardi-Goutieres syndrome (AGS) (McKusick 225750) is an autosomal recessive disease with onset in the 1st year of life, resulting in progressive microcephaly, calcification of cerebral white matter, thalamus and basal ganglia, generalized cerebral demyelination and a chronic low-grade CSF lymphocytosis, without evidence of infection.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_provenance.
- NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_assertion evidence source_evidence_literature NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_provenance.
- NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_assertion SIO_000772 10442562 NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_provenance.
- NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_assertion wasDerivedFrom befree-20140225 NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_provenance.
- NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_assertion wasGeneratedBy ECO_0000203 NP286782.RAbKlCjeNnhd7gPbUtceaSn9dOqvNanD13TKCbtMqKMFU130_provenance.