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- source_evidence_literature type ECO_0000212 NP713440.RAQiad_O7Hm4Oka2YqgHs5eUvi03btSy9ntEqdoFz2WfI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP713440.RAQiad_O7Hm4Oka2YqgHs5eUvi03btSy9ntEqdoFz2WfI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP713440.RAQiad_O7Hm4Oka2YqgHs5eUvi03btSy9ntEqdoFz2WfI130_provenance.
- NP713440.RAQiad_O7Hm4Oka2YqgHs5eUvi03btSy9ntEqdoFz2WfI130_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." NP713440.RAQiad_O7Hm4Oka2YqgHs5eUvi03btSy9ntEqdoFz2WfI130_provenance.
- NP713440.RAQiad_O7Hm4Oka2YqgHs5eUvi03btSy9ntEqdoFz2WfI130_assertion evidence source_evidence_literature NP713440.RAQiad_O7Hm4Oka2YqgHs5eUvi03btSy9ntEqdoFz2WfI130_provenance.
- NP713440.RAQiad_O7Hm4Oka2YqgHs5eUvi03btSy9ntEqdoFz2WfI130_assertion SIO_000772 19136952 NP713440.RAQiad_O7Hm4Oka2YqgHs5eUvi03btSy9ntEqdoFz2WfI130_provenance.
- NP713440.RAQiad_O7Hm4Oka2YqgHs5eUvi03btSy9ntEqdoFz2WfI130_assertion wasDerivedFrom befree-2016 NP713440.RAQiad_O7Hm4Oka2YqgHs5eUvi03btSy9ntEqdoFz2WfI130_provenance.
- NP713440.RAQiad_O7Hm4Oka2YqgHs5eUvi03btSy9ntEqdoFz2WfI130_assertion wasGeneratedBy ECO_0000203 NP713440.RAQiad_O7Hm4Oka2YqgHs5eUvi03btSy9ntEqdoFz2WfI130_provenance.
- befree-2016 importedOn "2016-02-19" NP713440.RAQiad_O7Hm4Oka2YqgHs5eUvi03btSy9ntEqdoFz2WfI130_provenance.