Matches in Nanopublications for { ?s ?p "[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."@en ?g. }
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- NP156990.RAtfxBBgr78HNVGaQWoN1164gc7H1uAvFpD32c623FB74130_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." NP156990.RAtfxBBgr78HNVGaQWoN1164gc7H1uAvFpD32c623FB74130_provenance.
- 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.
- 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." 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.
- 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.