Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP713439.RAze-4vp-0xvPN_9XRsYtxv6FIeiVTBHIC2CsynaCtg6U130_assertion> ?p ?o ?g. }
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- NP713439.RAze-4vp-0xvPN_9XRsYtxv6FIeiVTBHIC2CsynaCtg6U130_assertion type Assertion NP713439.RAze-4vp-0xvPN_9XRsYtxv6FIeiVTBHIC2CsynaCtg6U130_head.
- NP713439.RAze-4vp-0xvPN_9XRsYtxv6FIeiVTBHIC2CsynaCtg6U130_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." NP713439.RAze-4vp-0xvPN_9XRsYtxv6FIeiVTBHIC2CsynaCtg6U130_provenance.
- NP713439.RAze-4vp-0xvPN_9XRsYtxv6FIeiVTBHIC2CsynaCtg6U130_assertion evidence source_evidence_literature NP713439.RAze-4vp-0xvPN_9XRsYtxv6FIeiVTBHIC2CsynaCtg6U130_provenance.
- NP713439.RAze-4vp-0xvPN_9XRsYtxv6FIeiVTBHIC2CsynaCtg6U130_assertion SIO_000772 19136952 NP713439.RAze-4vp-0xvPN_9XRsYtxv6FIeiVTBHIC2CsynaCtg6U130_provenance.
- NP713439.RAze-4vp-0xvPN_9XRsYtxv6FIeiVTBHIC2CsynaCtg6U130_assertion wasDerivedFrom befree-2016 NP713439.RAze-4vp-0xvPN_9XRsYtxv6FIeiVTBHIC2CsynaCtg6U130_provenance.
- NP713439.RAze-4vp-0xvPN_9XRsYtxv6FIeiVTBHIC2CsynaCtg6U130_assertion wasGeneratedBy ECO_0000203 NP713439.RAze-4vp-0xvPN_9XRsYtxv6FIeiVTBHIC2CsynaCtg6U130_provenance.