Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP810966.RAef3QxSRfUltyUNxDBg9cCqIePD8jJz_ZeJPccA1dxLQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP810966.RAef3QxSRfUltyUNxDBg9cCqIePD8jJz_ZeJPccA1dxLQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP810966.RAef3QxSRfUltyUNxDBg9cCqIePD8jJz_ZeJPccA1dxLQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP810966.RAef3QxSRfUltyUNxDBg9cCqIePD8jJz_ZeJPccA1dxLQ130_provenance.
- NP810966.RAef3QxSRfUltyUNxDBg9cCqIePD8jJz_ZeJPccA1dxLQ130_assertion description "[These data demonstrate that some MDS-associated mutations in SGCE impair trafficking of the mutant protein to the plasma membrane and suggest a role for torsinA and the ubiquitin proteasome system in the recognition and processing of misfolded epsilon-sarcoglycan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP810966.RAef3QxSRfUltyUNxDBg9cCqIePD8jJz_ZeJPccA1dxLQ130_provenance.
- NP810966.RAef3QxSRfUltyUNxDBg9cCqIePD8jJz_ZeJPccA1dxLQ130_assertion evidence source_evidence_literature NP810966.RAef3QxSRfUltyUNxDBg9cCqIePD8jJz_ZeJPccA1dxLQ130_provenance.
- NP810966.RAef3QxSRfUltyUNxDBg9cCqIePD8jJz_ZeJPccA1dxLQ130_assertion SIO_000772 17200151 NP810966.RAef3QxSRfUltyUNxDBg9cCqIePD8jJz_ZeJPccA1dxLQ130_provenance.
- NP810966.RAef3QxSRfUltyUNxDBg9cCqIePD8jJz_ZeJPccA1dxLQ130_assertion wasDerivedFrom befree-20150227 NP810966.RAef3QxSRfUltyUNxDBg9cCqIePD8jJz_ZeJPccA1dxLQ130_provenance.
- NP810966.RAef3QxSRfUltyUNxDBg9cCqIePD8jJz_ZeJPccA1dxLQ130_assertion wasGeneratedBy ECO_0000203 NP810966.RAef3QxSRfUltyUNxDBg9cCqIePD8jJz_ZeJPccA1dxLQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP810966.RAef3QxSRfUltyUNxDBg9cCqIePD8jJz_ZeJPccA1dxLQ130_provenance.