Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP320409.RA874mBM3RNScY89VAdDXCJr9jKbmOBtD0kmzXeS_y6pM130_assertion> ?p ?o ?g. }
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- NP320409.RA874mBM3RNScY89VAdDXCJr9jKbmOBtD0kmzXeS_y6pM130_assertion type Assertion NP320409.RA874mBM3RNScY89VAdDXCJr9jKbmOBtD0kmzXeS_y6pM130_head.
- NP320409.RA874mBM3RNScY89VAdDXCJr9jKbmOBtD0kmzXeS_y6pM130_assertion description "[Recessive mutations in two of the three collagen VI genes, COL6A2 and COL6A3, have recently been shown to cause Ullrich congenital muscular dystrophy (UCMD), a frequently severe disorder characterized by congenital muscle weakness with joint contractures and coexisting distal joint hyperlaxity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP320409.RA874mBM3RNScY89VAdDXCJr9jKbmOBtD0kmzXeS_y6pM130_provenance.
- NP320409.RA874mBM3RNScY89VAdDXCJr9jKbmOBtD0kmzXeS_y6pM130_assertion evidence source_evidence_literature NP320409.RA874mBM3RNScY89VAdDXCJr9jKbmOBtD0kmzXeS_y6pM130_provenance.
- NP320409.RA874mBM3RNScY89VAdDXCJr9jKbmOBtD0kmzXeS_y6pM130_assertion SIO_000772 12840783 NP320409.RA874mBM3RNScY89VAdDXCJr9jKbmOBtD0kmzXeS_y6pM130_provenance.
- NP320409.RA874mBM3RNScY89VAdDXCJr9jKbmOBtD0kmzXeS_y6pM130_assertion wasDerivedFrom befree-20150227 NP320409.RA874mBM3RNScY89VAdDXCJr9jKbmOBtD0kmzXeS_y6pM130_provenance.
- NP320409.RA874mBM3RNScY89VAdDXCJr9jKbmOBtD0kmzXeS_y6pM130_assertion wasGeneratedBy ECO_0000203 NP320409.RA874mBM3RNScY89VAdDXCJr9jKbmOBtD0kmzXeS_y6pM130_provenance.