Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP450921.RANj4ABiG0H6sN1F9pqFwX40BCChZLQWZDWffCX1DTTeA130_assertion> ?p ?o ?g. }
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- NP450921.RANj4ABiG0H6sN1F9pqFwX40BCChZLQWZDWffCX1DTTeA130_assertion type Assertion NP450921.RANj4ABiG0H6sN1F9pqFwX40BCChZLQWZDWffCX1DTTeA130_head.
- NP450921.RANj4ABiG0H6sN1F9pqFwX40BCChZLQWZDWffCX1DTTeA130_assertion wasGeneratedBy ECO_0000203 NP450921.RANj4ABiG0H6sN1F9pqFwX40BCChZLQWZDWffCX1DTTeA130_provenance.
- NP450921.RANj4ABiG0H6sN1F9pqFwX40BCChZLQWZDWffCX1DTTeA130_assertion wasDerivedFrom befree-20140225 NP450921.RANj4ABiG0H6sN1F9pqFwX40BCChZLQWZDWffCX1DTTeA130_provenance.
- NP450921.RANj4ABiG0H6sN1F9pqFwX40BCChZLQWZDWffCX1DTTeA130_assertion SIO_000772 19932620 NP450921.RANj4ABiG0H6sN1F9pqFwX40BCChZLQWZDWffCX1DTTeA130_provenance.
- NP450921.RANj4ABiG0H6sN1F9pqFwX40BCChZLQWZDWffCX1DTTeA130_assertion evidence source_evidence_literature NP450921.RANj4ABiG0H6sN1F9pqFwX40BCChZLQWZDWffCX1DTTeA130_provenance.
- NP450921.RANj4ABiG0H6sN1F9pqFwX40BCChZLQWZDWffCX1DTTeA130_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." NP450921.RANj4ABiG0H6sN1F9pqFwX40BCChZLQWZDWffCX1DTTeA130_provenance.