Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_provenance.
- NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_assertion description "[In this series, we found a 5q35 deletion removing the NSD1 gene in a patient with severe epilepsy, profound MR and, retrospectively, craniofacial features of Sotos syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_provenance.
- NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_assertion evidence source_evidence_literature NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_provenance.
- NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_assertion SIO_000772 16773131 NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_provenance.
- NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_assertion wasDerivedFrom befree-20150227 NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_provenance.
- NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_assertion wasGeneratedBy ECO_0000203 NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_provenance.
- befree-20150227 importedOn "2015-02-27" NP938764.RAcTDz6CiFg3ZnkWc4KjTWSjrpGrGzKyBqeJBQ2XkPJ_s130_provenance.