Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP434195.RAZNfFnknxQzYOd_YF-ADyEkzOzqs1VBFwdwQ4Z055Cx0130_assertion> ?p ?o ?g. }
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- NP434195.RAZNfFnknxQzYOd_YF-ADyEkzOzqs1VBFwdwQ4Z055Cx0130_assertion type Assertion NP434195.RAZNfFnknxQzYOd_YF-ADyEkzOzqs1VBFwdwQ4Z055Cx0130_head.
- NP434195.RAZNfFnknxQzYOd_YF-ADyEkzOzqs1VBFwdwQ4Z055Cx0130_assertion description "[We identified a novel Cys521Tyr progranulin gene variant in a PNFA family that potentially disrupts disulphide bridging causing protein misfolding.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP434195.RAZNfFnknxQzYOd_YF-ADyEkzOzqs1VBFwdwQ4Z055Cx0130_provenance.
- NP434195.RAZNfFnknxQzYOd_YF-ADyEkzOzqs1VBFwdwQ4Z055Cx0130_assertion evidence source_evidence_literature NP434195.RAZNfFnknxQzYOd_YF-ADyEkzOzqs1VBFwdwQ4Z055Cx0130_provenance.
- NP434195.RAZNfFnknxQzYOd_YF-ADyEkzOzqs1VBFwdwQ4Z055Cx0130_assertion SIO_000772 19020205 NP434195.RAZNfFnknxQzYOd_YF-ADyEkzOzqs1VBFwdwQ4Z055Cx0130_provenance.
- NP434195.RAZNfFnknxQzYOd_YF-ADyEkzOzqs1VBFwdwQ4Z055Cx0130_assertion wasDerivedFrom befree-20150227 NP434195.RAZNfFnknxQzYOd_YF-ADyEkzOzqs1VBFwdwQ4Z055Cx0130_provenance.
- NP434195.RAZNfFnknxQzYOd_YF-ADyEkzOzqs1VBFwdwQ4Z055Cx0130_assertion wasGeneratedBy ECO_0000203 NP434195.RAZNfFnknxQzYOd_YF-ADyEkzOzqs1VBFwdwQ4Z055Cx0130_provenance.