Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP838223.RAXrS2YGR2AbSP-aAmje-GgFtsWYPoiE2Ys1D51O6fHQA130_assertion> ?p ?o ?g. }
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- NP838223.RAXrS2YGR2AbSP-aAmje-GgFtsWYPoiE2Ys1D51O6fHQA130_assertion type Assertion NP838223.RAXrS2YGR2AbSP-aAmje-GgFtsWYPoiE2Ys1D51O6fHQA130_head.
- NP838223.RAXrS2YGR2AbSP-aAmje-GgFtsWYPoiE2Ys1D51O6fHQA130_assertion wasGeneratedBy ECO_0000203 NP838223.RAXrS2YGR2AbSP-aAmje-GgFtsWYPoiE2Ys1D51O6fHQA130_provenance.
- NP838223.RAXrS2YGR2AbSP-aAmje-GgFtsWYPoiE2Ys1D51O6fHQA130_assertion wasDerivedFrom befree-20140225 NP838223.RAXrS2YGR2AbSP-aAmje-GgFtsWYPoiE2Ys1D51O6fHQA130_provenance.
- NP838223.RAXrS2YGR2AbSP-aAmje-GgFtsWYPoiE2Ys1D51O6fHQA130_assertion SIO_000772 19932620 NP838223.RAXrS2YGR2AbSP-aAmje-GgFtsWYPoiE2Ys1D51O6fHQA130_provenance.
- NP838223.RAXrS2YGR2AbSP-aAmje-GgFtsWYPoiE2Ys1D51O6fHQA130_assertion evidence source_evidence_literature NP838223.RAXrS2YGR2AbSP-aAmje-GgFtsWYPoiE2Ys1D51O6fHQA130_provenance.
- NP838223.RAXrS2YGR2AbSP-aAmje-GgFtsWYPoiE2Ys1D51O6fHQA130_assertion description "[Dynamin 2 (DNM2)-related dominant centronuclear myopathy is usually a mild disorder, but more severe variants have been associated with mutations affecting the pleckstrin homology (PH) domain of the protein, mainly implicated in different forms of Charcot-Marie-Tooth Disease (CMT).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP838223.RAXrS2YGR2AbSP-aAmje-GgFtsWYPoiE2Ys1D51O6fHQA130_provenance.