Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP978875.RAk-UGbbuuAAr24Pf3M8jRGMTENYzR2tpIpwy3Ka-ZGUw130_assertion> ?p ?o ?g. }
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- NP978875.RAk-UGbbuuAAr24Pf3M8jRGMTENYzR2tpIpwy3Ka-ZGUw130_assertion type Assertion NP978875.RAk-UGbbuuAAr24Pf3M8jRGMTENYzR2tpIpwy3Ka-ZGUw130_head.
- NP978875.RAk-UGbbuuAAr24Pf3M8jRGMTENYzR2tpIpwy3Ka-ZGUw130_assertion wasGeneratedBy ECO_0000203 NP978875.RAk-UGbbuuAAr24Pf3M8jRGMTENYzR2tpIpwy3Ka-ZGUw130_provenance.
- NP978875.RAk-UGbbuuAAr24Pf3M8jRGMTENYzR2tpIpwy3Ka-ZGUw130_assertion wasDerivedFrom befree-2016 NP978875.RAk-UGbbuuAAr24Pf3M8jRGMTENYzR2tpIpwy3Ka-ZGUw130_provenance.
- NP978875.RAk-UGbbuuAAr24Pf3M8jRGMTENYzR2tpIpwy3Ka-ZGUw130_assertion SIO_000772 22549409 NP978875.RAk-UGbbuuAAr24Pf3M8jRGMTENYzR2tpIpwy3Ka-ZGUw130_provenance.
- NP978875.RAk-UGbbuuAAr24Pf3M8jRGMTENYzR2tpIpwy3Ka-ZGUw130_assertion evidence source_evidence_literature NP978875.RAk-UGbbuuAAr24Pf3M8jRGMTENYzR2tpIpwy3Ka-ZGUw130_provenance.
- NP978875.RAk-UGbbuuAAr24Pf3M8jRGMTENYzR2tpIpwy3Ka-ZGUw130_assertion description "[We report three patients who harbored compound heterozygous POMT1 mutations and showed left ventricular (LV) dilation and/or decrease in myocardial contractile force: two had a LGMD phenotype with a normal or close-to-normal cognitive profile and one had CMD with mental retardation and normal brain MRI.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP978875.RAk-UGbbuuAAr24Pf3M8jRGMTENYzR2tpIpwy3Ka-ZGUw130_provenance.