Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP494480.RAUJSDfbXnOqhnGEAwhMa-_9zUzB1WUl8_KUanrfO4Aaw130_assertion> ?p ?o ?g. }
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- NP494480.RAUJSDfbXnOqhnGEAwhMa-_9zUzB1WUl8_KUanrfO4Aaw130_assertion type Assertion NP494480.RAUJSDfbXnOqhnGEAwhMa-_9zUzB1WUl8_KUanrfO4Aaw130_head.
- NP494480.RAUJSDfbXnOqhnGEAwhMa-_9zUzB1WUl8_KUanrfO4Aaw130_assertion description "[We describe a patient with a longstanding history of hypertrophic neuropathy of Dejerine-Sottas type, ultimately diagnosed with CMT1E disease due to a new p.Leu18Arg missense mutation in the first transmembrane domain of the PMP22 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP494480.RAUJSDfbXnOqhnGEAwhMa-_9zUzB1WUl8_KUanrfO4Aaw130_provenance.
- NP494480.RAUJSDfbXnOqhnGEAwhMa-_9zUzB1WUl8_KUanrfO4Aaw130_assertion evidence source_evidence_literature NP494480.RAUJSDfbXnOqhnGEAwhMa-_9zUzB1WUl8_KUanrfO4Aaw130_provenance.
- NP494480.RAUJSDfbXnOqhnGEAwhMa-_9zUzB1WUl8_KUanrfO4Aaw130_assertion SIO_000772 23313019 NP494480.RAUJSDfbXnOqhnGEAwhMa-_9zUzB1WUl8_KUanrfO4Aaw130_provenance.
- NP494480.RAUJSDfbXnOqhnGEAwhMa-_9zUzB1WUl8_KUanrfO4Aaw130_assertion wasDerivedFrom befree-20140225 NP494480.RAUJSDfbXnOqhnGEAwhMa-_9zUzB1WUl8_KUanrfO4Aaw130_provenance.
- NP494480.RAUJSDfbXnOqhnGEAwhMa-_9zUzB1WUl8_KUanrfO4Aaw130_assertion wasGeneratedBy ECO_0000203 NP494480.RAUJSDfbXnOqhnGEAwhMa-_9zUzB1WUl8_KUanrfO4Aaw130_provenance.