Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP648846.RAeW7x8k_uxqdY-1mGSUpk8H7JtV9jFPW5gmdHQoQLZeU#assertion> ?p ?o ?g. }
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- assertion description "[A homozygous missense mutation, Arg527His, in the LMNA gene which encodes nuclear lamina proteins lamins A and C has been reported in patients with MAD and partial lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 12913070 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.