Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP346768.RATVCY6qeanyo-0oofgJsZD1TIwThpO8jy29AtBQiMHmI130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP346768.RATVCY6qeanyo-0oofgJsZD1TIwThpO8jy29AtBQiMHmI130_assertion type Assertion NP346768.RATVCY6qeanyo-0oofgJsZD1TIwThpO8jy29AtBQiMHmI130_head.
- NP346768.RATVCY6qeanyo-0oofgJsZD1TIwThpO8jy29AtBQiMHmI130_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." NP346768.RATVCY6qeanyo-0oofgJsZD1TIwThpO8jy29AtBQiMHmI130_provenance.
- NP346768.RATVCY6qeanyo-0oofgJsZD1TIwThpO8jy29AtBQiMHmI130_assertion evidence source_evidence_literature NP346768.RATVCY6qeanyo-0oofgJsZD1TIwThpO8jy29AtBQiMHmI130_provenance.
- NP346768.RATVCY6qeanyo-0oofgJsZD1TIwThpO8jy29AtBQiMHmI130_assertion SIO_000772 23768512 NP346768.RATVCY6qeanyo-0oofgJsZD1TIwThpO8jy29AtBQiMHmI130_provenance.
- NP346768.RATVCY6qeanyo-0oofgJsZD1TIwThpO8jy29AtBQiMHmI130_assertion wasDerivedFrom befree-20150227 NP346768.RATVCY6qeanyo-0oofgJsZD1TIwThpO8jy29AtBQiMHmI130_provenance.
- NP346768.RATVCY6qeanyo-0oofgJsZD1TIwThpO8jy29AtBQiMHmI130_assertion wasGeneratedBy ECO_0000203 NP346768.RATVCY6qeanyo-0oofgJsZD1TIwThpO8jy29AtBQiMHmI130_provenance.