Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP357139.RANdzRLnzPYPERZcScrtBluEK73b3HhK_phIzNN3A0fwk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP357139.RANdzRLnzPYPERZcScrtBluEK73b3HhK_phIzNN3A0fwk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP357139.RANdzRLnzPYPERZcScrtBluEK73b3HhK_phIzNN3A0fwk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP357139.RANdzRLnzPYPERZcScrtBluEK73b3HhK_phIzNN3A0fwk130_provenance.
- NP357139.RANdzRLnzPYPERZcScrtBluEK73b3HhK_phIzNN3A0fwk130_assertion description "[We conclude that dynamin 2 mutations should be screened in the autosomal dominant Charcot-Marie-Tooth neuropathy families with intermediate or axonal NCV, and in patients with a classical mild to moderately severe Charcot-Marie-Tooth phenotype, especially when Charcot-Marie-Tooth is associated with neutropaenia or cataracts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP357139.RANdzRLnzPYPERZcScrtBluEK73b3HhK_phIzNN3A0fwk130_provenance.
- NP357139.RANdzRLnzPYPERZcScrtBluEK73b3HhK_phIzNN3A0fwk130_assertion evidence source_evidence_literature NP357139.RANdzRLnzPYPERZcScrtBluEK73b3HhK_phIzNN3A0fwk130_provenance.
- NP357139.RANdzRLnzPYPERZcScrtBluEK73b3HhK_phIzNN3A0fwk130_assertion SIO_000772 19502294 NP357139.RANdzRLnzPYPERZcScrtBluEK73b3HhK_phIzNN3A0fwk130_provenance.
- NP357139.RANdzRLnzPYPERZcScrtBluEK73b3HhK_phIzNN3A0fwk130_assertion wasDerivedFrom befree-20150227 NP357139.RANdzRLnzPYPERZcScrtBluEK73b3HhK_phIzNN3A0fwk130_provenance.
- NP357139.RANdzRLnzPYPERZcScrtBluEK73b3HhK_phIzNN3A0fwk130_assertion wasGeneratedBy ECO_0000203 NP357139.RANdzRLnzPYPERZcScrtBluEK73b3HhK_phIzNN3A0fwk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP357139.RANdzRLnzPYPERZcScrtBluEK73b3HhK_phIzNN3A0fwk130_provenance.