Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1216753.RAscZvrTCW670JGknrKUyAZanAprmFwPBUJihF_b1CuLM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1216753.RAscZvrTCW670JGknrKUyAZanAprmFwPBUJihF_b1CuLM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1216753.RAscZvrTCW670JGknrKUyAZanAprmFwPBUJihF_b1CuLM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1216753.RAscZvrTCW670JGknrKUyAZanAprmFwPBUJihF_b1CuLM130_provenance.
- NP1216753.RAscZvrTCW670JGknrKUyAZanAprmFwPBUJihF_b1CuLM130_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." NP1216753.RAscZvrTCW670JGknrKUyAZanAprmFwPBUJihF_b1CuLM130_provenance.
- NP1216753.RAscZvrTCW670JGknrKUyAZanAprmFwPBUJihF_b1CuLM130_assertion evidence source_evidence_literature NP1216753.RAscZvrTCW670JGknrKUyAZanAprmFwPBUJihF_b1CuLM130_provenance.
- NP1216753.RAscZvrTCW670JGknrKUyAZanAprmFwPBUJihF_b1CuLM130_assertion SIO_000772 25188300 NP1216753.RAscZvrTCW670JGknrKUyAZanAprmFwPBUJihF_b1CuLM130_provenance.
- NP1216753.RAscZvrTCW670JGknrKUyAZanAprmFwPBUJihF_b1CuLM130_assertion wasDerivedFrom befree-2016 NP1216753.RAscZvrTCW670JGknrKUyAZanAprmFwPBUJihF_b1CuLM130_provenance.
- NP1216753.RAscZvrTCW670JGknrKUyAZanAprmFwPBUJihF_b1CuLM130_assertion wasGeneratedBy ECO_0000203 NP1216753.RAscZvrTCW670JGknrKUyAZanAprmFwPBUJihF_b1CuLM130_provenance.
- befree-2016 importedOn "2016-02-19" NP1216753.RAscZvrTCW670JGknrKUyAZanAprmFwPBUJihF_b1CuLM130_provenance.