Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP873705.RAV0tQIZhGl3v4v59zyLbBmKMI6SdXFAb8i3-pS2w4QsI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP873705.RAV0tQIZhGl3v4v59zyLbBmKMI6SdXFAb8i3-pS2w4QsI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP873705.RAV0tQIZhGl3v4v59zyLbBmKMI6SdXFAb8i3-pS2w4QsI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP873705.RAV0tQIZhGl3v4v59zyLbBmKMI6SdXFAb8i3-pS2w4QsI130_provenance.
- NP873705.RAV0tQIZhGl3v4v59zyLbBmKMI6SdXFAb8i3-pS2w4QsI130_assertion description "[We carried out genome-wide linkage analysis and identified five disease-segregating mutations affecting the CAP-Gly domain of dynactin (encoded by DCTN1) in eight families with Perry syndrome; these mutations diminish microtubule binding and lead to intracytoplasmic inclusions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP873705.RAV0tQIZhGl3v4v59zyLbBmKMI6SdXFAb8i3-pS2w4QsI130_provenance.
- NP873705.RAV0tQIZhGl3v4v59zyLbBmKMI6SdXFAb8i3-pS2w4QsI130_assertion evidence source_evidence_literature NP873705.RAV0tQIZhGl3v4v59zyLbBmKMI6SdXFAb8i3-pS2w4QsI130_provenance.
- NP873705.RAV0tQIZhGl3v4v59zyLbBmKMI6SdXFAb8i3-pS2w4QsI130_assertion SIO_000772 19136952 NP873705.RAV0tQIZhGl3v4v59zyLbBmKMI6SdXFAb8i3-pS2w4QsI130_provenance.
- NP873705.RAV0tQIZhGl3v4v59zyLbBmKMI6SdXFAb8i3-pS2w4QsI130_assertion wasDerivedFrom befree-20150227 NP873705.RAV0tQIZhGl3v4v59zyLbBmKMI6SdXFAb8i3-pS2w4QsI130_provenance.
- NP873705.RAV0tQIZhGl3v4v59zyLbBmKMI6SdXFAb8i3-pS2w4QsI130_assertion wasGeneratedBy ECO_0000203 NP873705.RAV0tQIZhGl3v4v59zyLbBmKMI6SdXFAb8i3-pS2w4QsI130_provenance.
- befree-20150227 importedOn "2015-02-27" NP873705.RAV0tQIZhGl3v4v59zyLbBmKMI6SdXFAb8i3-pS2w4QsI130_provenance.