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- source_evidence_literature type ECO_0000212 NP346768.RATVCY6qeanyo-0oofgJsZD1TIwThpO8jy29AtBQiMHmI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP346768.RATVCY6qeanyo-0oofgJsZD1TIwThpO8jy29AtBQiMHmI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP346768.RATVCY6qeanyo-0oofgJsZD1TIwThpO8jy29AtBQiMHmI130_provenance.
- 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.
- befree-20150227 importedOn "2015-02-27" NP346768.RATVCY6qeanyo-0oofgJsZD1TIwThpO8jy29AtBQiMHmI130_provenance.