Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP307389.RA1mG6RBpQ9UUR_L-ZAD8AFBcqmroBzKKAIydH2IDEZ58130_assertion> ?p ?o ?g. }
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- NP307389.RA1mG6RBpQ9UUR_L-ZAD8AFBcqmroBzKKAIydH2IDEZ58130_assertion type Assertion NP307389.RA1mG6RBpQ9UUR_L-ZAD8AFBcqmroBzKKAIydH2IDEZ58130_head.
- NP307389.RA1mG6RBpQ9UUR_L-ZAD8AFBcqmroBzKKAIydH2IDEZ58130_assertion description "[Dysregulation of calcium signals because of defects of the skeletal muscle sarcoplasmic reticulum calcium release channel (ryanodine receptor; RyR1) is causative of several congenital muscle disorders including malignant hyperthermia (MH; MIM #145600), central core disease (CCD; MIM #11700), specific forms of multi-minicore disease (MmD; MIM # 255320) and centronuclear myopathy (CNM).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP307389.RA1mG6RBpQ9UUR_L-ZAD8AFBcqmroBzKKAIydH2IDEZ58130_provenance.
- NP307389.RA1mG6RBpQ9UUR_L-ZAD8AFBcqmroBzKKAIydH2IDEZ58130_assertion evidence source_evidence_literature NP307389.RA1mG6RBpQ9UUR_L-ZAD8AFBcqmroBzKKAIydH2IDEZ58130_provenance.
- NP307389.RA1mG6RBpQ9UUR_L-ZAD8AFBcqmroBzKKAIydH2IDEZ58130_assertion SIO_000772 18313359 NP307389.RA1mG6RBpQ9UUR_L-ZAD8AFBcqmroBzKKAIydH2IDEZ58130_provenance.
- NP307389.RA1mG6RBpQ9UUR_L-ZAD8AFBcqmroBzKKAIydH2IDEZ58130_assertion wasDerivedFrom befree-20140225 NP307389.RA1mG6RBpQ9UUR_L-ZAD8AFBcqmroBzKKAIydH2IDEZ58130_provenance.
- NP307389.RA1mG6RBpQ9UUR_L-ZAD8AFBcqmroBzKKAIydH2IDEZ58130_assertion wasGeneratedBy ECO_0000203 NP307389.RA1mG6RBpQ9UUR_L-ZAD8AFBcqmroBzKKAIydH2IDEZ58130_provenance.