Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP658305.RAstQvYnZIK1CerzE-ipBJnR_3i_MSVmOJIDW4PokS0SQ130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP658305.RAstQvYnZIK1CerzE-ipBJnR_3i_MSVmOJIDW4PokS0SQ130_assertion type Assertion NP658305.RAstQvYnZIK1CerzE-ipBJnR_3i_MSVmOJIDW4PokS0SQ130_head.
- NP658305.RAstQvYnZIK1CerzE-ipBJnR_3i_MSVmOJIDW4PokS0SQ130_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." NP658305.RAstQvYnZIK1CerzE-ipBJnR_3i_MSVmOJIDW4PokS0SQ130_provenance.
- NP658305.RAstQvYnZIK1CerzE-ipBJnR_3i_MSVmOJIDW4PokS0SQ130_assertion evidence source_evidence_literature NP658305.RAstQvYnZIK1CerzE-ipBJnR_3i_MSVmOJIDW4PokS0SQ130_provenance.
- NP658305.RAstQvYnZIK1CerzE-ipBJnR_3i_MSVmOJIDW4PokS0SQ130_assertion SIO_000772 18313359 NP658305.RAstQvYnZIK1CerzE-ipBJnR_3i_MSVmOJIDW4PokS0SQ130_provenance.
- NP658305.RAstQvYnZIK1CerzE-ipBJnR_3i_MSVmOJIDW4PokS0SQ130_assertion wasDerivedFrom befree-2016 NP658305.RAstQvYnZIK1CerzE-ipBJnR_3i_MSVmOJIDW4PokS0SQ130_provenance.
- NP658305.RAstQvYnZIK1CerzE-ipBJnR_3i_MSVmOJIDW4PokS0SQ130_assertion wasGeneratedBy ECO_0000203 NP658305.RAstQvYnZIK1CerzE-ipBJnR_3i_MSVmOJIDW4PokS0SQ130_provenance.