Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP330538.RAgoySdk4sQA2EHKzaF5VJQdqfGBVKOoJl9QJp7tIGVc4130_assertion> ?p ?o ?g. }
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- NP330538.RAgoySdk4sQA2EHKzaF5VJQdqfGBVKOoJl9QJp7tIGVc4130_assertion type Assertion NP330538.RAgoySdk4sQA2EHKzaF5VJQdqfGBVKOoJl9QJp7tIGVc4130_head.
- NP330538.RAgoySdk4sQA2EHKzaF5VJQdqfGBVKOoJl9QJp7tIGVc4130_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." NP330538.RAgoySdk4sQA2EHKzaF5VJQdqfGBVKOoJl9QJp7tIGVc4130_provenance.
- NP330538.RAgoySdk4sQA2EHKzaF5VJQdqfGBVKOoJl9QJp7tIGVc4130_assertion evidence source_evidence_literature NP330538.RAgoySdk4sQA2EHKzaF5VJQdqfGBVKOoJl9QJp7tIGVc4130_provenance.
- NP330538.RAgoySdk4sQA2EHKzaF5VJQdqfGBVKOoJl9QJp7tIGVc4130_assertion SIO_000772 10442562 NP330538.RAgoySdk4sQA2EHKzaF5VJQdqfGBVKOoJl9QJp7tIGVc4130_provenance.
- NP330538.RAgoySdk4sQA2EHKzaF5VJQdqfGBVKOoJl9QJp7tIGVc4130_assertion wasDerivedFrom befree-20150227 NP330538.RAgoySdk4sQA2EHKzaF5VJQdqfGBVKOoJl9QJp7tIGVc4130_provenance.
- NP330538.RAgoySdk4sQA2EHKzaF5VJQdqfGBVKOoJl9QJp7tIGVc4130_assertion wasGeneratedBy ECO_0000203 NP330538.RAgoySdk4sQA2EHKzaF5VJQdqfGBVKOoJl9QJp7tIGVc4130_provenance.