Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP2717.RAYc2nEQ4GA8jaHmYB3sSstnh0M8bElix0E0VaCCyZLF0130_assertion> ?p ?o ?g. }
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- NP2717.RAYc2nEQ4GA8jaHmYB3sSstnh0M8bElix0E0VaCCyZLF0130_assertion type Assertion NP2717.RAYc2nEQ4GA8jaHmYB3sSstnh0M8bElix0E0VaCCyZLF0130_head.
- NP2717.RAYc2nEQ4GA8jaHmYB3sSstnh0M8bElix0E0VaCCyZLF0130_assertion description "[Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2717.RAYc2nEQ4GA8jaHmYB3sSstnh0M8bElix0E0VaCCyZLF0130_provenance.
- NP2717.RAYc2nEQ4GA8jaHmYB3sSstnh0M8bElix0E0VaCCyZLF0130_assertion evidence source_evidence_curated NP2717.RAYc2nEQ4GA8jaHmYB3sSstnh0M8bElix0E0VaCCyZLF0130_provenance.
- NP2717.RAYc2nEQ4GA8jaHmYB3sSstnh0M8bElix0E0VaCCyZLF0130_assertion SIO_000772 15947997 NP2717.RAYc2nEQ4GA8jaHmYB3sSstnh0M8bElix0E0VaCCyZLF0130_provenance.
- NP2717.RAYc2nEQ4GA8jaHmYB3sSstnh0M8bElix0E0VaCCyZLF0130_assertion wasDerivedFrom uniprot-20130724 NP2717.RAYc2nEQ4GA8jaHmYB3sSstnh0M8bElix0E0VaCCyZLF0130_provenance.
- NP2717.RAYc2nEQ4GA8jaHmYB3sSstnh0M8bElix0E0VaCCyZLF0130_assertion wasGeneratedBy ECO_0000218 NP2717.RAYc2nEQ4GA8jaHmYB3sSstnh0M8bElix0E0VaCCyZLF0130_provenance.