Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP473179.RAWyK3xX0bX4V0BwUr1J9CNwTLEi_DtvlJxFMZ0qg9Nok130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP473179.RAWyK3xX0bX4V0BwUr1J9CNwTLEi_DtvlJxFMZ0qg9Nok130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP473179.RAWyK3xX0bX4V0BwUr1J9CNwTLEi_DtvlJxFMZ0qg9Nok130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP473179.RAWyK3xX0bX4V0BwUr1J9CNwTLEi_DtvlJxFMZ0qg9Nok130_provenance.
- NP473179.RAWyK3xX0bX4V0BwUr1J9CNwTLEi_DtvlJxFMZ0qg9Nok130_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." NP473179.RAWyK3xX0bX4V0BwUr1J9CNwTLEi_DtvlJxFMZ0qg9Nok130_provenance.
- NP473179.RAWyK3xX0bX4V0BwUr1J9CNwTLEi_DtvlJxFMZ0qg9Nok130_assertion evidence source_evidence_literature NP473179.RAWyK3xX0bX4V0BwUr1J9CNwTLEi_DtvlJxFMZ0qg9Nok130_provenance.
- NP473179.RAWyK3xX0bX4V0BwUr1J9CNwTLEi_DtvlJxFMZ0qg9Nok130_assertion SIO_000772 15605948 NP473179.RAWyK3xX0bX4V0BwUr1J9CNwTLEi_DtvlJxFMZ0qg9Nok130_provenance.
- NP473179.RAWyK3xX0bX4V0BwUr1J9CNwTLEi_DtvlJxFMZ0qg9Nok130_assertion wasDerivedFrom befree-2016 NP473179.RAWyK3xX0bX4V0BwUr1J9CNwTLEi_DtvlJxFMZ0qg9Nok130_provenance.
- NP473179.RAWyK3xX0bX4V0BwUr1J9CNwTLEi_DtvlJxFMZ0qg9Nok130_assertion wasGeneratedBy ECO_0000203 NP473179.RAWyK3xX0bX4V0BwUr1J9CNwTLEi_DtvlJxFMZ0qg9Nok130_provenance.
- befree-2016 importedOn "2016-02-19" NP473179.RAWyK3xX0bX4V0BwUr1J9CNwTLEi_DtvlJxFMZ0qg9Nok130_provenance.