Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP479986.RAVQp_TXXWUkHhxCDl1tXtv86q5HPShPxsgQcVsBU-UiI130_assertion> ?p ?o ?g. }
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- NP479986.RAVQp_TXXWUkHhxCDl1tXtv86q5HPShPxsgQcVsBU-UiI130_assertion type Assertion NP479986.RAVQp_TXXWUkHhxCDl1tXtv86q5HPShPxsgQcVsBU-UiI130_head.
- NP479986.RAVQp_TXXWUkHhxCDl1tXtv86q5HPShPxsgQcVsBU-UiI130_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." NP479986.RAVQp_TXXWUkHhxCDl1tXtv86q5HPShPxsgQcVsBU-UiI130_provenance.
- NP479986.RAVQp_TXXWUkHhxCDl1tXtv86q5HPShPxsgQcVsBU-UiI130_assertion evidence source_evidence_literature NP479986.RAVQp_TXXWUkHhxCDl1tXtv86q5HPShPxsgQcVsBU-UiI130_provenance.
- NP479986.RAVQp_TXXWUkHhxCDl1tXtv86q5HPShPxsgQcVsBU-UiI130_assertion SIO_000772 19502294 NP479986.RAVQp_TXXWUkHhxCDl1tXtv86q5HPShPxsgQcVsBU-UiI130_provenance.
- NP479986.RAVQp_TXXWUkHhxCDl1tXtv86q5HPShPxsgQcVsBU-UiI130_assertion wasDerivedFrom befree-20140225 NP479986.RAVQp_TXXWUkHhxCDl1tXtv86q5HPShPxsgQcVsBU-UiI130_provenance.
- NP479986.RAVQp_TXXWUkHhxCDl1tXtv86q5HPShPxsgQcVsBU-UiI130_assertion wasGeneratedBy ECO_0000203 NP479986.RAVQp_TXXWUkHhxCDl1tXtv86q5HPShPxsgQcVsBU-UiI130_provenance.