Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1086052.RA1oak4lffljMlezjmhfskfGj4DRJFqpEWu9b2dLSW_a8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1086052.RA1oak4lffljMlezjmhfskfGj4DRJFqpEWu9b2dLSW_a8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1086052.RA1oak4lffljMlezjmhfskfGj4DRJFqpEWu9b2dLSW_a8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1086052.RA1oak4lffljMlezjmhfskfGj4DRJFqpEWu9b2dLSW_a8130_provenance.
- NP1086052.RA1oak4lffljMlezjmhfskfGj4DRJFqpEWu9b2dLSW_a8130_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." NP1086052.RA1oak4lffljMlezjmhfskfGj4DRJFqpEWu9b2dLSW_a8130_provenance.
- NP1086052.RA1oak4lffljMlezjmhfskfGj4DRJFqpEWu9b2dLSW_a8130_assertion evidence source_evidence_literature NP1086052.RA1oak4lffljMlezjmhfskfGj4DRJFqpEWu9b2dLSW_a8130_provenance.
- NP1086052.RA1oak4lffljMlezjmhfskfGj4DRJFqpEWu9b2dLSW_a8130_assertion SIO_000772 23768512 NP1086052.RA1oak4lffljMlezjmhfskfGj4DRJFqpEWu9b2dLSW_a8130_provenance.
- NP1086052.RA1oak4lffljMlezjmhfskfGj4DRJFqpEWu9b2dLSW_a8130_assertion wasDerivedFrom befree-2016 NP1086052.RA1oak4lffljMlezjmhfskfGj4DRJFqpEWu9b2dLSW_a8130_provenance.
- NP1086052.RA1oak4lffljMlezjmhfskfGj4DRJFqpEWu9b2dLSW_a8130_assertion wasGeneratedBy ECO_0000203 NP1086052.RA1oak4lffljMlezjmhfskfGj4DRJFqpEWu9b2dLSW_a8130_provenance.
- befree-2016 importedOn "2016-02-19" NP1086052.RA1oak4lffljMlezjmhfskfGj4DRJFqpEWu9b2dLSW_a8130_provenance.