Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP864418.RASlm1ynxFY-AuQIv1FPLH8RsQ9MVPdZ0XaXmWu1DJuLc130_assertion> ?p ?o ?g. }
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- NP864418.RASlm1ynxFY-AuQIv1FPLH8RsQ9MVPdZ0XaXmWu1DJuLc130_assertion type Assertion NP864418.RASlm1ynxFY-AuQIv1FPLH8RsQ9MVPdZ0XaXmWu1DJuLc130_head.
- NP864418.RASlm1ynxFY-AuQIv1FPLH8RsQ9MVPdZ0XaXmWu1DJuLc130_assertion description "[Symptoms in DNM2-CNM included bilateral ptosis (n = 3), paresis of the external ocular muscles (n = 2), axonal neuropathy (n = 4), restrictive ventilatory involvement (n = 5), and contractures (n = 5), including muscular torticollis (n = 1) and masticatory muscles (n = 2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP864418.RASlm1ynxFY-AuQIv1FPLH8RsQ9MVPdZ0XaXmWu1DJuLc130_provenance.
- NP864418.RASlm1ynxFY-AuQIv1FPLH8RsQ9MVPdZ0XaXmWu1DJuLc130_assertion evidence source_evidence_literature NP864418.RASlm1ynxFY-AuQIv1FPLH8RsQ9MVPdZ0XaXmWu1DJuLc130_provenance.
- NP864418.RASlm1ynxFY-AuQIv1FPLH8RsQ9MVPdZ0XaXmWu1DJuLc130_assertion SIO_000772 21221624 NP864418.RASlm1ynxFY-AuQIv1FPLH8RsQ9MVPdZ0XaXmWu1DJuLc130_provenance.
- NP864418.RASlm1ynxFY-AuQIv1FPLH8RsQ9MVPdZ0XaXmWu1DJuLc130_assertion wasDerivedFrom befree-2016 NP864418.RASlm1ynxFY-AuQIv1FPLH8RsQ9MVPdZ0XaXmWu1DJuLc130_provenance.
- NP864418.RASlm1ynxFY-AuQIv1FPLH8RsQ9MVPdZ0XaXmWu1DJuLc130_assertion wasGeneratedBy ECO_0000203 NP864418.RASlm1ynxFY-AuQIv1FPLH8RsQ9MVPdZ0XaXmWu1DJuLc130_provenance.