Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP615276.RAtTj2jNwci39-e0REqrg7UTPqN5m_VeSLFmoXBaK9ByI130_assertion> ?p ?o ?g. }
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- NP615276.RAtTj2jNwci39-e0REqrg7UTPqN5m_VeSLFmoXBaK9ByI130_assertion type Assertion NP615276.RAtTj2jNwci39-e0REqrg7UTPqN5m_VeSLFmoXBaK9ByI130_head.
- 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.