Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP408692.RAvhAXulwERbhO6yFaZnzdIrY5yjH2UzGG5NUf1LJzJyU130_assertion> ?p ?o ?g. }
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- NP408692.RAvhAXulwERbhO6yFaZnzdIrY5yjH2UzGG5NUf1LJzJyU130_assertion type Assertion NP408692.RAvhAXulwERbhO6yFaZnzdIrY5yjH2UzGG5NUf1LJzJyU130_head.
- NP408692.RAvhAXulwERbhO6yFaZnzdIrY5yjH2UzGG5NUf1LJzJyU130_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." NP408692.RAvhAXulwERbhO6yFaZnzdIrY5yjH2UzGG5NUf1LJzJyU130_provenance.
- NP408692.RAvhAXulwERbhO6yFaZnzdIrY5yjH2UzGG5NUf1LJzJyU130_assertion evidence source_evidence_literature NP408692.RAvhAXulwERbhO6yFaZnzdIrY5yjH2UzGG5NUf1LJzJyU130_provenance.
- NP408692.RAvhAXulwERbhO6yFaZnzdIrY5yjH2UzGG5NUf1LJzJyU130_assertion SIO_000772 12970845 NP408692.RAvhAXulwERbhO6yFaZnzdIrY5yjH2UzGG5NUf1LJzJyU130_provenance.
- NP408692.RAvhAXulwERbhO6yFaZnzdIrY5yjH2UzGG5NUf1LJzJyU130_assertion wasDerivedFrom befree-2016 NP408692.RAvhAXulwERbhO6yFaZnzdIrY5yjH2UzGG5NUf1LJzJyU130_provenance.
- NP408692.RAvhAXulwERbhO6yFaZnzdIrY5yjH2UzGG5NUf1LJzJyU130_assertion wasGeneratedBy ECO_0000203 NP408692.RAvhAXulwERbhO6yFaZnzdIrY5yjH2UzGG5NUf1LJzJyU130_provenance.