Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP836430.RAY65oDo0XhM6_SX1taQ5gsDquMPcLKAzJomRgh9zE5Q4130_assertion> ?p ?o ?g. }
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- NP836430.RAY65oDo0XhM6_SX1taQ5gsDquMPcLKAzJomRgh9zE5Q4130_assertion type Assertion NP836430.RAY65oDo0XhM6_SX1taQ5gsDquMPcLKAzJomRgh9zE5Q4130_head.
- NP836430.RAY65oDo0XhM6_SX1taQ5gsDquMPcLKAzJomRgh9zE5Q4130_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." NP836430.RAY65oDo0XhM6_SX1taQ5gsDquMPcLKAzJomRgh9zE5Q4130_provenance.
- NP836430.RAY65oDo0XhM6_SX1taQ5gsDquMPcLKAzJomRgh9zE5Q4130_assertion evidence source_evidence_literature NP836430.RAY65oDo0XhM6_SX1taQ5gsDquMPcLKAzJomRgh9zE5Q4130_provenance.
- NP836430.RAY65oDo0XhM6_SX1taQ5gsDquMPcLKAzJomRgh9zE5Q4130_assertion SIO_000772 12913070 NP836430.RAY65oDo0XhM6_SX1taQ5gsDquMPcLKAzJomRgh9zE5Q4130_provenance.
- NP836430.RAY65oDo0XhM6_SX1taQ5gsDquMPcLKAzJomRgh9zE5Q4130_assertion wasDerivedFrom befree-20140225 NP836430.RAY65oDo0XhM6_SX1taQ5gsDquMPcLKAzJomRgh9zE5Q4130_provenance.
- NP836430.RAY65oDo0XhM6_SX1taQ5gsDquMPcLKAzJomRgh9zE5Q4130_assertion wasGeneratedBy ECO_0000203 NP836430.RAY65oDo0XhM6_SX1taQ5gsDquMPcLKAzJomRgh9zE5Q4130_provenance.