Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP713435.RAj3wMOz5gieJfaQ27bVAHlk5u0sKXXaT-PDLQViMF4aA130_assertion> ?p ?o ?g. }
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- NP713435.RAj3wMOz5gieJfaQ27bVAHlk5u0sKXXaT-PDLQViMF4aA130_assertion type Assertion NP713435.RAj3wMOz5gieJfaQ27bVAHlk5u0sKXXaT-PDLQViMF4aA130_head.
- NP713435.RAj3wMOz5gieJfaQ27bVAHlk5u0sKXXaT-PDLQViMF4aA130_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." NP713435.RAj3wMOz5gieJfaQ27bVAHlk5u0sKXXaT-PDLQViMF4aA130_provenance.
- NP713435.RAj3wMOz5gieJfaQ27bVAHlk5u0sKXXaT-PDLQViMF4aA130_assertion evidence source_evidence_literature NP713435.RAj3wMOz5gieJfaQ27bVAHlk5u0sKXXaT-PDLQViMF4aA130_provenance.
- NP713435.RAj3wMOz5gieJfaQ27bVAHlk5u0sKXXaT-PDLQViMF4aA130_assertion SIO_000772 19136952 NP713435.RAj3wMOz5gieJfaQ27bVAHlk5u0sKXXaT-PDLQViMF4aA130_provenance.
- NP713435.RAj3wMOz5gieJfaQ27bVAHlk5u0sKXXaT-PDLQViMF4aA130_assertion wasDerivedFrom befree-2016 NP713435.RAj3wMOz5gieJfaQ27bVAHlk5u0sKXXaT-PDLQViMF4aA130_provenance.
- NP713435.RAj3wMOz5gieJfaQ27bVAHlk5u0sKXXaT-PDLQViMF4aA130_assertion wasGeneratedBy ECO_0000203 NP713435.RAj3wMOz5gieJfaQ27bVAHlk5u0sKXXaT-PDLQViMF4aA130_provenance.