Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP365639.RAVSyyKsTZjgc01A1lQm6I3QJw2mWO5KyEeXv5gIQW6cs130_assertion> ?p ?o ?g. }
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- NP365639.RAVSyyKsTZjgc01A1lQm6I3QJw2mWO5KyEeXv5gIQW6cs130_assertion type Assertion NP365639.RAVSyyKsTZjgc01A1lQm6I3QJw2mWO5KyEeXv5gIQW6cs130_head.
- NP365639.RAVSyyKsTZjgc01A1lQm6I3QJw2mWO5KyEeXv5gIQW6cs130_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." NP365639.RAVSyyKsTZjgc01A1lQm6I3QJw2mWO5KyEeXv5gIQW6cs130_provenance.
- NP365639.RAVSyyKsTZjgc01A1lQm6I3QJw2mWO5KyEeXv5gIQW6cs130_assertion evidence source_evidence_literature NP365639.RAVSyyKsTZjgc01A1lQm6I3QJw2mWO5KyEeXv5gIQW6cs130_provenance.
- NP365639.RAVSyyKsTZjgc01A1lQm6I3QJw2mWO5KyEeXv5gIQW6cs130_assertion SIO_000772 12913070 NP365639.RAVSyyKsTZjgc01A1lQm6I3QJw2mWO5KyEeXv5gIQW6cs130_provenance.
- NP365639.RAVSyyKsTZjgc01A1lQm6I3QJw2mWO5KyEeXv5gIQW6cs130_assertion wasDerivedFrom befree-20140225 NP365639.RAVSyyKsTZjgc01A1lQm6I3QJw2mWO5KyEeXv5gIQW6cs130_provenance.
- NP365639.RAVSyyKsTZjgc01A1lQm6I3QJw2mWO5KyEeXv5gIQW6cs130_assertion wasGeneratedBy ECO_0000203 NP365639.RAVSyyKsTZjgc01A1lQm6I3QJw2mWO5KyEeXv5gIQW6cs130_provenance.