Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1303788.RAMCjuH09Xm0JAzOmZ25sXJ0q6lmNN55AsteZvaAKFa3Y#provenance>. }
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- source_evidence_literature type ECO_0000212 provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." provenance.
- assertion description "[Copy-number variants and truncating mutations in SHANK genes were present in ?1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 25188300 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.
- BEFREE importedOn "2017-02-19" provenance.