Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP630716.RAB1zYlc4bLK2FvyfUpIJABUmUJJmBBHS-CNEb3w6ScBs130_assertion> ?p ?o ?g. }
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- NP630716.RAB1zYlc4bLK2FvyfUpIJABUmUJJmBBHS-CNEb3w6ScBs130_assertion type Assertion NP630716.RAB1zYlc4bLK2FvyfUpIJABUmUJJmBBHS-CNEb3w6ScBs130_head.
- NP630716.RAB1zYlc4bLK2FvyfUpIJABUmUJJmBBHS-CNEb3w6ScBs130_assertion wasGeneratedBy ECO_0000203 NP630716.RAB1zYlc4bLK2FvyfUpIJABUmUJJmBBHS-CNEb3w6ScBs130_provenance.
- NP630716.RAB1zYlc4bLK2FvyfUpIJABUmUJJmBBHS-CNEb3w6ScBs130_assertion wasDerivedFrom befree-20150227 NP630716.RAB1zYlc4bLK2FvyfUpIJABUmUJJmBBHS-CNEb3w6ScBs130_provenance.
- NP630716.RAB1zYlc4bLK2FvyfUpIJABUmUJJmBBHS-CNEb3w6ScBs130_assertion SIO_000772 19932620 NP630716.RAB1zYlc4bLK2FvyfUpIJABUmUJJmBBHS-CNEb3w6ScBs130_provenance.
- NP630716.RAB1zYlc4bLK2FvyfUpIJABUmUJJmBBHS-CNEb3w6ScBs130_assertion evidence source_evidence_literature NP630716.RAB1zYlc4bLK2FvyfUpIJABUmUJJmBBHS-CNEb3w6ScBs130_provenance.
- NP630716.RAB1zYlc4bLK2FvyfUpIJABUmUJJmBBHS-CNEb3w6ScBs130_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." NP630716.RAB1zYlc4bLK2FvyfUpIJABUmUJJmBBHS-CNEb3w6ScBs130_provenance.