Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP815221.RAwlvJuXlHEHVH7YqS0hvn1RdXY1CNWTqhIJ81SmYq5jw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP815221.RAwlvJuXlHEHVH7YqS0hvn1RdXY1CNWTqhIJ81SmYq5jw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP815221.RAwlvJuXlHEHVH7YqS0hvn1RdXY1CNWTqhIJ81SmYq5jw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP815221.RAwlvJuXlHEHVH7YqS0hvn1RdXY1CNWTqhIJ81SmYq5jw130_provenance.
- befree-2016 importedOn "2016-02-19" NP815221.RAwlvJuXlHEHVH7YqS0hvn1RdXY1CNWTqhIJ81SmYq5jw130_provenance.
- NP815221.RAwlvJuXlHEHVH7YqS0hvn1RdXY1CNWTqhIJ81SmYq5jw130_assertion wasGeneratedBy ECO_0000203 NP815221.RAwlvJuXlHEHVH7YqS0hvn1RdXY1CNWTqhIJ81SmYq5jw130_provenance.
- NP815221.RAwlvJuXlHEHVH7YqS0hvn1RdXY1CNWTqhIJ81SmYq5jw130_assertion wasDerivedFrom befree-2016 NP815221.RAwlvJuXlHEHVH7YqS0hvn1RdXY1CNWTqhIJ81SmYq5jw130_provenance.
- NP815221.RAwlvJuXlHEHVH7YqS0hvn1RdXY1CNWTqhIJ81SmYq5jw130_assertion SIO_000772 20507343 NP815221.RAwlvJuXlHEHVH7YqS0hvn1RdXY1CNWTqhIJ81SmYq5jw130_provenance.
- NP815221.RAwlvJuXlHEHVH7YqS0hvn1RdXY1CNWTqhIJ81SmYq5jw130_assertion evidence source_evidence_literature NP815221.RAwlvJuXlHEHVH7YqS0hvn1RdXY1CNWTqhIJ81SmYq5jw130_provenance.
- NP815221.RAwlvJuXlHEHVH7YqS0hvn1RdXY1CNWTqhIJ81SmYq5jw130_assertion description "[This study doubles the number of known mutations for this disorder, confirms that truncating mutations in C2orf37 are the only known cause of WSS, and suggests that mutations in this gene do not contribute significantly to cases presenting with isolated elements of WSS such as deafness and dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP815221.RAwlvJuXlHEHVH7YqS0hvn1RdXY1CNWTqhIJ81SmYq5jw130_provenance.