Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP7812.RAU4NNhB0s7a4xBe7mzVaYrQnJYc1fKLhKM5aKLGBFbDk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7812.RAU4NNhB0s7a4xBe7mzVaYrQnJYc1fKLhKM5aKLGBFbDk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7812.RAU4NNhB0s7a4xBe7mzVaYrQnJYc1fKLhKM5aKLGBFbDk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7812.RAU4NNhB0s7a4xBe7mzVaYrQnJYc1fKLhKM5aKLGBFbDk130_provenance.
- NP7812.RAU4NNhB0s7a4xBe7mzVaYrQnJYc1fKLhKM5aKLGBFbDk130_assertion description "[Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7812.RAU4NNhB0s7a4xBe7mzVaYrQnJYc1fKLhKM5aKLGBFbDk130_provenance.
- NP7812.RAU4NNhB0s7a4xBe7mzVaYrQnJYc1fKLhKM5aKLGBFbDk130_assertion evidence source_evidence_curated NP7812.RAU4NNhB0s7a4xBe7mzVaYrQnJYc1fKLhKM5aKLGBFbDk130_provenance.
- NP7812.RAU4NNhB0s7a4xBe7mzVaYrQnJYc1fKLhKM5aKLGBFbDk130_assertion SIO_000772 24589341 NP7812.RAU4NNhB0s7a4xBe7mzVaYrQnJYc1fKLhKM5aKLGBFbDk130_provenance.
- NP7812.RAU4NNhB0s7a4xBe7mzVaYrQnJYc1fKLhKM5aKLGBFbDk130_assertion wasDerivedFrom uniprot-2016 NP7812.RAU4NNhB0s7a4xBe7mzVaYrQnJYc1fKLhKM5aKLGBFbDk130_provenance.
- NP7812.RAU4NNhB0s7a4xBe7mzVaYrQnJYc1fKLhKM5aKLGBFbDk130_assertion wasGeneratedBy ECO_0000218 NP7812.RAU4NNhB0s7a4xBe7mzVaYrQnJYc1fKLhKM5aKLGBFbDk130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP7812.RAU4NNhB0s7a4xBe7mzVaYrQnJYc1fKLhKM5aKLGBFbDk130_provenance.