Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP824732.RAlnVudlxVqjiB89pziJ5mijtB8cWitLP6-mRcVstYqDo130_assertion> ?p ?o ?g. }
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- NP824732.RAlnVudlxVqjiB89pziJ5mijtB8cWitLP6-mRcVstYqDo130_assertion type Assertion NP824732.RAlnVudlxVqjiB89pziJ5mijtB8cWitLP6-mRcVstYqDo130_head.
- NP824732.RAlnVudlxVqjiB89pziJ5mijtB8cWitLP6-mRcVstYqDo130_assertion description "[1) Mutations in myotilin cause MFM; 2) exon 2 of MYOT is a hotspot for mutations; 3) peripheral neuropathy, cardiomyopathy, and distal weakness greater than proximal weakness are part of the spectrum of myotilinopathy; 4) not all cases of myotilinopathy have a limb-girdle phenotype; and 5) the molecular basis of the majority of MFM cases remains to be discovered.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP824732.RAlnVudlxVqjiB89pziJ5mijtB8cWitLP6-mRcVstYqDo130_provenance.
- NP824732.RAlnVudlxVqjiB89pziJ5mijtB8cWitLP6-mRcVstYqDo130_assertion evidence source_evidence_literature NP824732.RAlnVudlxVqjiB89pziJ5mijtB8cWitLP6-mRcVstYqDo130_provenance.
- NP824732.RAlnVudlxVqjiB89pziJ5mijtB8cWitLP6-mRcVstYqDo130_assertion SIO_000772 15111675 NP824732.RAlnVudlxVqjiB89pziJ5mijtB8cWitLP6-mRcVstYqDo130_provenance.
- NP824732.RAlnVudlxVqjiB89pziJ5mijtB8cWitLP6-mRcVstYqDo130_assertion wasDerivedFrom befree-20150227 NP824732.RAlnVudlxVqjiB89pziJ5mijtB8cWitLP6-mRcVstYqDo130_provenance.
- NP824732.RAlnVudlxVqjiB89pziJ5mijtB8cWitLP6-mRcVstYqDo130_assertion wasGeneratedBy ECO_0000203 NP824732.RAlnVudlxVqjiB89pziJ5mijtB8cWitLP6-mRcVstYqDo130_provenance.