Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1086052.RA1oak4lffljMlezjmhfskfGj4DRJFqpEWu9b2dLSW_a8130_assertion> ?p ?o ?g. }
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- NP1086052.RA1oak4lffljMlezjmhfskfGj4DRJFqpEWu9b2dLSW_a8130_assertion type Assertion NP1086052.RA1oak4lffljMlezjmhfskfGj4DRJFqpEWu9b2dLSW_a8130_head.
- 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.