Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP156990.RAtfxBBgr78HNVGaQWoN1164gc7H1uAvFpD32c623FB74130_assertion> ?p ?o ?g. }
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- NP156990.RAtfxBBgr78HNVGaQWoN1164gc7H1uAvFpD32c623FB74130_assertion type Assertion NP156990.RAtfxBBgr78HNVGaQWoN1164gc7H1uAvFpD32c623FB74130_head.
- NP156990.RAtfxBBgr78HNVGaQWoN1164gc7H1uAvFpD32c623FB74130_assertion description "[Using a combination of exome and Sanger sequencing in eight unrelated individuals, we present evidence that mutations in guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) can result in muscular dystrophy variants with hypoglycosylated ?-DG.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP156990.RAtfxBBgr78HNVGaQWoN1164gc7H1uAvFpD32c623FB74130_provenance.
- NP156990.RAtfxBBgr78HNVGaQWoN1164gc7H1uAvFpD32c623FB74130_assertion evidence source_evidence_literature NP156990.RAtfxBBgr78HNVGaQWoN1164gc7H1uAvFpD32c623FB74130_provenance.
- NP156990.RAtfxBBgr78HNVGaQWoN1164gc7H1uAvFpD32c623FB74130_assertion SIO_000772 23768512 NP156990.RAtfxBBgr78HNVGaQWoN1164gc7H1uAvFpD32c623FB74130_provenance.
- NP156990.RAtfxBBgr78HNVGaQWoN1164gc7H1uAvFpD32c623FB74130_assertion wasDerivedFrom befree-20140225 NP156990.RAtfxBBgr78HNVGaQWoN1164gc7H1uAvFpD32c623FB74130_provenance.
- NP156990.RAtfxBBgr78HNVGaQWoN1164gc7H1uAvFpD32c623FB74130_assertion wasGeneratedBy ECO_0000203 NP156990.RAtfxBBgr78HNVGaQWoN1164gc7H1uAvFpD32c623FB74130_provenance.