Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP648089.RAeki_n3oPv25AVB6POxzSYnBsVtrAfVaR3gQHAP3UyVs#assertion> ?p ?o ?g. }
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- assertion description "[Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 11799477 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.