Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP615276.RAtTj2jNwci39-e0REqrg7UTPqN5m_VeSLFmoXBaK9ByI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP615276.RAtTj2jNwci39-e0REqrg7UTPqN5m_VeSLFmoXBaK9ByI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP615276.RAtTj2jNwci39-e0REqrg7UTPqN5m_VeSLFmoXBaK9ByI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP615276.RAtTj2jNwci39-e0REqrg7UTPqN5m_VeSLFmoXBaK9ByI130_provenance.
- NP615276.RAtTj2jNwci39-e0REqrg7UTPqN5m_VeSLFmoXBaK9ByI130_assertion description "[In this study, we show that while the majority of MDS-associated missense mutants modeled with a murine ?-sarcoglycan cDNA are substrates for endoplasmic reticulum-associated degradation, one mutant, M68T (analogous to human c.275T>C, p.M92T), located in the Ig-like domain of ?-sarcoglycan, results in a gain-of-glycosylation mutation producing a protein that is targeted to the plasma membrane, albeit at reduced levels compared to wild-type ?-sarcoglycan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP615276.RAtTj2jNwci39-e0REqrg7UTPqN5m_VeSLFmoXBaK9ByI130_provenance.
- NP615276.RAtTj2jNwci39-e0REqrg7UTPqN5m_VeSLFmoXBaK9ByI130_assertion evidence source_evidence_literature NP615276.RAtTj2jNwci39-e0REqrg7UTPqN5m_VeSLFmoXBaK9ByI130_provenance.
- NP615276.RAtTj2jNwci39-e0REqrg7UTPqN5m_VeSLFmoXBaK9ByI130_assertion SIO_000772 21796726 NP615276.RAtTj2jNwci39-e0REqrg7UTPqN5m_VeSLFmoXBaK9ByI130_provenance.
- NP615276.RAtTj2jNwci39-e0REqrg7UTPqN5m_VeSLFmoXBaK9ByI130_assertion wasDerivedFrom befree-20140225 NP615276.RAtTj2jNwci39-e0REqrg7UTPqN5m_VeSLFmoXBaK9ByI130_provenance.
- NP615276.RAtTj2jNwci39-e0REqrg7UTPqN5m_VeSLFmoXBaK9ByI130_assertion wasGeneratedBy ECO_0000203 NP615276.RAtTj2jNwci39-e0REqrg7UTPqN5m_VeSLFmoXBaK9ByI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP615276.RAtTj2jNwci39-e0REqrg7UTPqN5m_VeSLFmoXBaK9ByI130_provenance.