Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP534643.RA6hCkdTDto-p9cq9ijS9Ndz5fImE0ShAfxefaW08uakA130_assertion> ?p ?o ?g. }
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- NP534643.RA6hCkdTDto-p9cq9ijS9Ndz5fImE0ShAfxefaW08uakA130_assertion type Assertion NP534643.RA6hCkdTDto-p9cq9ijS9Ndz5fImE0ShAfxefaW08uakA130_head.
- NP534643.RA6hCkdTDto-p9cq9ijS9Ndz5fImE0ShAfxefaW08uakA130_assertion description "[Multiple families, predominantly of German descent and with clinically variable presentation that included proximal myotonic myopathy (PROMM) and type 2 DM (DM2) but without the DM1 mutation, showed linkage to the 3q21 region and were recently shown to segregate a (CCTG)(n) expansion mutation in intron 1 of ZNF9.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP534643.RA6hCkdTDto-p9cq9ijS9Ndz5fImE0ShAfxefaW08uakA130_provenance.
- NP534643.RA6hCkdTDto-p9cq9ijS9Ndz5fImE0ShAfxefaW08uakA130_assertion evidence source_evidence_literature NP534643.RA6hCkdTDto-p9cq9ijS9Ndz5fImE0ShAfxefaW08uakA130_provenance.
- NP534643.RA6hCkdTDto-p9cq9ijS9Ndz5fImE0ShAfxefaW08uakA130_assertion SIO_000772 12970845 NP534643.RA6hCkdTDto-p9cq9ijS9Ndz5fImE0ShAfxefaW08uakA130_provenance.
- NP534643.RA6hCkdTDto-p9cq9ijS9Ndz5fImE0ShAfxefaW08uakA130_assertion wasDerivedFrom befree-20140225 NP534643.RA6hCkdTDto-p9cq9ijS9Ndz5fImE0ShAfxefaW08uakA130_provenance.
- NP534643.RA6hCkdTDto-p9cq9ijS9Ndz5fImE0ShAfxefaW08uakA130_assertion wasGeneratedBy ECO_0000203 NP534643.RA6hCkdTDto-p9cq9ijS9Ndz5fImE0ShAfxefaW08uakA130_provenance.