Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP536689.RAYLRku7fNy1Lwj0qsCd_Zejl5_ej2x6RAMvRcB3Q4dFc130_assertion> ?p ?o ?g. }
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- NP536689.RAYLRku7fNy1Lwj0qsCd_Zejl5_ej2x6RAMvRcB3Q4dFc130_assertion type Assertion NP536689.RAYLRku7fNy1Lwj0qsCd_Zejl5_ej2x6RAMvRcB3Q4dFc130_head.
- NP536689.RAYLRku7fNy1Lwj0qsCd_Zejl5_ej2x6RAMvRcB3Q4dFc130_assertion description "[Mutations in SEPN1 have been associated with three autosomal recessive congenital myopathies, including rigid spine muscular dystrophy, multiminicore disease and desmin-related myopathy with Mallory body-like inclusions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP536689.RAYLRku7fNy1Lwj0qsCd_Zejl5_ej2x6RAMvRcB3Q4dFc130_provenance.
- NP536689.RAYLRku7fNy1Lwj0qsCd_Zejl5_ej2x6RAMvRcB3Q4dFc130_assertion evidence source_evidence_literature NP536689.RAYLRku7fNy1Lwj0qsCd_Zejl5_ej2x6RAMvRcB3Q4dFc130_provenance.
- NP536689.RAYLRku7fNy1Lwj0qsCd_Zejl5_ej2x6RAMvRcB3Q4dFc130_assertion SIO_000772 15792869 NP536689.RAYLRku7fNy1Lwj0qsCd_Zejl5_ej2x6RAMvRcB3Q4dFc130_provenance.
- NP536689.RAYLRku7fNy1Lwj0qsCd_Zejl5_ej2x6RAMvRcB3Q4dFc130_assertion wasDerivedFrom befree-20140225 NP536689.RAYLRku7fNy1Lwj0qsCd_Zejl5_ej2x6RAMvRcB3Q4dFc130_provenance.
- NP536689.RAYLRku7fNy1Lwj0qsCd_Zejl5_ej2x6RAMvRcB3Q4dFc130_assertion wasGeneratedBy ECO_0000203 NP536689.RAYLRku7fNy1Lwj0qsCd_Zejl5_ej2x6RAMvRcB3Q4dFc130_provenance.