Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP473176.RA0Sb6yn0XokjsUJRu4W8pUyHHLOoKs1b9oX4iV95h1dk130_assertion> ?p ?o ?g. }
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- NP473176.RA0Sb6yn0XokjsUJRu4W8pUyHHLOoKs1b9oX4iV95h1dk130_assertion type Assertion NP473176.RA0Sb6yn0XokjsUJRu4W8pUyHHLOoKs1b9oX4iV95h1dk130_head.
- NP473176.RA0Sb6yn0XokjsUJRu4W8pUyHHLOoKs1b9oX4iV95h1dk130_assertion description "[Five of these genes (POMT1; POMGnT1; FXRP; Fukutin; LARGE) encode for proteins involved in the glycosylation of alpha-dystroglycan and, indeed, abnormal glycosylation of this molecule is a common finding in all the respective conditions (Walker Warburg syndrome; Muscle-Eye-Brain disease; congenital muscular dystrophy type 1C and Limb girdle muscular dystrophy type 21; Fukuyama muscular dystrophy; congenital muscular dystrophy type 1D).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP473176.RA0Sb6yn0XokjsUJRu4W8pUyHHLOoKs1b9oX4iV95h1dk130_provenance.
- NP473176.RA0Sb6yn0XokjsUJRu4W8pUyHHLOoKs1b9oX4iV95h1dk130_assertion evidence source_evidence_literature NP473176.RA0Sb6yn0XokjsUJRu4W8pUyHHLOoKs1b9oX4iV95h1dk130_provenance.
- NP473176.RA0Sb6yn0XokjsUJRu4W8pUyHHLOoKs1b9oX4iV95h1dk130_assertion SIO_000772 15605948 NP473176.RA0Sb6yn0XokjsUJRu4W8pUyHHLOoKs1b9oX4iV95h1dk130_provenance.
- NP473176.RA0Sb6yn0XokjsUJRu4W8pUyHHLOoKs1b9oX4iV95h1dk130_assertion wasDerivedFrom befree-2016 NP473176.RA0Sb6yn0XokjsUJRu4W8pUyHHLOoKs1b9oX4iV95h1dk130_provenance.
- NP473176.RA0Sb6yn0XokjsUJRu4W8pUyHHLOoKs1b9oX4iV95h1dk130_assertion wasGeneratedBy ECO_0000203 NP473176.RA0Sb6yn0XokjsUJRu4W8pUyHHLOoKs1b9oX4iV95h1dk130_provenance.