Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP664059.RAvTUaIs6lySlx4h_no6rZf-SKJ-ROaqcwKQIuTBQWDZU130_assertion> ?p ?o ?g. }
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- NP664059.RAvTUaIs6lySlx4h_no6rZf-SKJ-ROaqcwKQIuTBQWDZU130_assertion type Assertion NP664059.RAvTUaIs6lySlx4h_no6rZf-SKJ-ROaqcwKQIuTBQWDZU130_head.
- NP664059.RAvTUaIs6lySlx4h_no6rZf-SKJ-ROaqcwKQIuTBQWDZU130_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." NP664059.RAvTUaIs6lySlx4h_no6rZf-SKJ-ROaqcwKQIuTBQWDZU130_provenance.
- NP664059.RAvTUaIs6lySlx4h_no6rZf-SKJ-ROaqcwKQIuTBQWDZU130_assertion evidence source_evidence_literature NP664059.RAvTUaIs6lySlx4h_no6rZf-SKJ-ROaqcwKQIuTBQWDZU130_provenance.
- NP664059.RAvTUaIs6lySlx4h_no6rZf-SKJ-ROaqcwKQIuTBQWDZU130_assertion SIO_000772 23768512 NP664059.RAvTUaIs6lySlx4h_no6rZf-SKJ-ROaqcwKQIuTBQWDZU130_provenance.
- NP664059.RAvTUaIs6lySlx4h_no6rZf-SKJ-ROaqcwKQIuTBQWDZU130_assertion wasDerivedFrom befree-20140225 NP664059.RAvTUaIs6lySlx4h_no6rZf-SKJ-ROaqcwKQIuTBQWDZU130_provenance.
- NP664059.RAvTUaIs6lySlx4h_no6rZf-SKJ-ROaqcwKQIuTBQWDZU130_assertion wasGeneratedBy ECO_0000203 NP664059.RAvTUaIs6lySlx4h_no6rZf-SKJ-ROaqcwKQIuTBQWDZU130_provenance.