Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP189956.RAgFYNZuPMK_N1h1QN3aUNjep37y9R3O_vviw1NkVUez8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP189956.RAgFYNZuPMK_N1h1QN3aUNjep37y9R3O_vviw1NkVUez8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP189956.RAgFYNZuPMK_N1h1QN3aUNjep37y9R3O_vviw1NkVUez8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP189956.RAgFYNZuPMK_N1h1QN3aUNjep37y9R3O_vviw1NkVUez8130_provenance.
- NP189956.RAgFYNZuPMK_N1h1QN3aUNjep37y9R3O_vviw1NkVUez8130_assertion description "[A protein truncating mutation was identified in the gene CC2D1A in nine consanguineous families with severe autosomal recessive mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP189956.RAgFYNZuPMK_N1h1QN3aUNjep37y9R3O_vviw1NkVUez8130_provenance.
- NP189956.RAgFYNZuPMK_N1h1QN3aUNjep37y9R3O_vviw1NkVUez8130_assertion evidence source_evidence_literature NP189956.RAgFYNZuPMK_N1h1QN3aUNjep37y9R3O_vviw1NkVUez8130_provenance.
- NP189956.RAgFYNZuPMK_N1h1QN3aUNjep37y9R3O_vviw1NkVUez8130_assertion SIO_000772 16033914 NP189956.RAgFYNZuPMK_N1h1QN3aUNjep37y9R3O_vviw1NkVUez8130_provenance.
- NP189956.RAgFYNZuPMK_N1h1QN3aUNjep37y9R3O_vviw1NkVUez8130_assertion wasDerivedFrom lhgdn-20090331 NP189956.RAgFYNZuPMK_N1h1QN3aUNjep37y9R3O_vviw1NkVUez8130_provenance.
- NP189956.RAgFYNZuPMK_N1h1QN3aUNjep37y9R3O_vviw1NkVUez8130_assertion wasGeneratedBy ECO_0000203 NP189956.RAgFYNZuPMK_N1h1QN3aUNjep37y9R3O_vviw1NkVUez8130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP189956.RAgFYNZuPMK_N1h1QN3aUNjep37y9R3O_vviw1NkVUez8130_provenance.