Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_assertion> ?p ?o ?g. }
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- NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_assertion type Assertion NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_head.
- NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_assertion description "[A novel mutation in the TTID gene results in the clinical and pathologic phenotype termed `spheroid body myopathy.` Mutations in this gene also cause limb-girdle muscular dystrophy 1A and are associated with myofibrillar myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_provenance.
- NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_assertion evidence source_evidence_literature NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_provenance.
- NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_assertion SIO_000772 16380616 NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_provenance.
- NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_assertion wasDerivedFrom befree-20140225 NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_provenance.
- NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_assertion wasGeneratedBy ECO_0000203 NP307305.RAPLoOb5y_--lf9XDbvr1rOLipYZ8yDFiAmRiufbbcfWo130_provenance.