Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP851974.RAFnJccL2JlCgXJmgQSZKcpvoL26kkLocpmJ5r7Vq1LNE130_assertion> ?p ?o ?g. }
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- NP851974.RAFnJccL2JlCgXJmgQSZKcpvoL26kkLocpmJ5r7Vq1LNE130_assertion type Assertion NP851974.RAFnJccL2JlCgXJmgQSZKcpvoL26kkLocpmJ5r7Vq1LNE130_head.
- NP851974.RAFnJccL2JlCgXJmgQSZKcpvoL26kkLocpmJ5r7Vq1LNE130_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." NP851974.RAFnJccL2JlCgXJmgQSZKcpvoL26kkLocpmJ5r7Vq1LNE130_provenance.
- NP851974.RAFnJccL2JlCgXJmgQSZKcpvoL26kkLocpmJ5r7Vq1LNE130_assertion evidence source_evidence_literature NP851974.RAFnJccL2JlCgXJmgQSZKcpvoL26kkLocpmJ5r7Vq1LNE130_provenance.
- NP851974.RAFnJccL2JlCgXJmgQSZKcpvoL26kkLocpmJ5r7Vq1LNE130_assertion SIO_000772 19136952 NP851974.RAFnJccL2JlCgXJmgQSZKcpvoL26kkLocpmJ5r7Vq1LNE130_provenance.
- NP851974.RAFnJccL2JlCgXJmgQSZKcpvoL26kkLocpmJ5r7Vq1LNE130_assertion wasDerivedFrom befree-20140225 NP851974.RAFnJccL2JlCgXJmgQSZKcpvoL26kkLocpmJ5r7Vq1LNE130_provenance.
- NP851974.RAFnJccL2JlCgXJmgQSZKcpvoL26kkLocpmJ5r7Vq1LNE130_assertion wasGeneratedBy ECO_0000203 NP851974.RAFnJccL2JlCgXJmgQSZKcpvoL26kkLocpmJ5r7Vq1LNE130_provenance.