Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1130055.RAK2GOpcTRotUFnOTzsBea95j56FKV37TCzNyE3OXddzk130_assertion> ?p ?o ?g. }
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- NP1130055.RAK2GOpcTRotUFnOTzsBea95j56FKV37TCzNyE3OXddzk130_assertion type Assertion NP1130055.RAK2GOpcTRotUFnOTzsBea95j56FKV37TCzNyE3OXddzk130_head.
- NP1130055.RAK2GOpcTRotUFnOTzsBea95j56FKV37TCzNyE3OXddzk130_assertion description "[A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1130055.RAK2GOpcTRotUFnOTzsBea95j56FKV37TCzNyE3OXddzk130_provenance.
- NP1130055.RAK2GOpcTRotUFnOTzsBea95j56FKV37TCzNyE3OXddzk130_assertion evidence source_evidence_literature NP1130055.RAK2GOpcTRotUFnOTzsBea95j56FKV37TCzNyE3OXddzk130_provenance.
- NP1130055.RAK2GOpcTRotUFnOTzsBea95j56FKV37TCzNyE3OXddzk130_assertion SIO_000772 24259288 NP1130055.RAK2GOpcTRotUFnOTzsBea95j56FKV37TCzNyE3OXddzk130_provenance.
- NP1130055.RAK2GOpcTRotUFnOTzsBea95j56FKV37TCzNyE3OXddzk130_assertion wasDerivedFrom befree-2016 NP1130055.RAK2GOpcTRotUFnOTzsBea95j56FKV37TCzNyE3OXddzk130_provenance.
- NP1130055.RAK2GOpcTRotUFnOTzsBea95j56FKV37TCzNyE3OXddzk130_assertion wasGeneratedBy ECO_0000203 NP1130055.RAK2GOpcTRotUFnOTzsBea95j56FKV37TCzNyE3OXddzk130_provenance.