Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP630706.RAWkFHCtrecZQwcjjBHfZJzAtAp5p2CJKD25rUohnqPXs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP630706.RAWkFHCtrecZQwcjjBHfZJzAtAp5p2CJKD25rUohnqPXs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP630706.RAWkFHCtrecZQwcjjBHfZJzAtAp5p2CJKD25rUohnqPXs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP630706.RAWkFHCtrecZQwcjjBHfZJzAtAp5p2CJKD25rUohnqPXs130_provenance.
- NP630706.RAWkFHCtrecZQwcjjBHfZJzAtAp5p2CJKD25rUohnqPXs130_assertion description "[All patients with POMT1 and POMT2 mutations had evidence of either structural or functional central nervous system involvement including four patients with mental retardation and a LGMD phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP630706.RAWkFHCtrecZQwcjjBHfZJzAtAp5p2CJKD25rUohnqPXs130_provenance.
- NP630706.RAWkFHCtrecZQwcjjBHfZJzAtAp5p2CJKD25rUohnqPXs130_assertion evidence source_evidence_literature NP630706.RAWkFHCtrecZQwcjjBHfZJzAtAp5p2CJKD25rUohnqPXs130_provenance.
- NP630706.RAWkFHCtrecZQwcjjBHfZJzAtAp5p2CJKD25rUohnqPXs130_assertion SIO_000772 17878207 NP630706.RAWkFHCtrecZQwcjjBHfZJzAtAp5p2CJKD25rUohnqPXs130_provenance.
- NP630706.RAWkFHCtrecZQwcjjBHfZJzAtAp5p2CJKD25rUohnqPXs130_assertion wasDerivedFrom befree-2016 NP630706.RAWkFHCtrecZQwcjjBHfZJzAtAp5p2CJKD25rUohnqPXs130_provenance.
- NP630706.RAWkFHCtrecZQwcjjBHfZJzAtAp5p2CJKD25rUohnqPXs130_assertion wasGeneratedBy ECO_0000203 NP630706.RAWkFHCtrecZQwcjjBHfZJzAtAp5p2CJKD25rUohnqPXs130_provenance.
- befree-2016 importedOn "2016-02-19" NP630706.RAWkFHCtrecZQwcjjBHfZJzAtAp5p2CJKD25rUohnqPXs130_provenance.