Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP777257.RAb83LWaeg-tcgkp_n6B8Et-wXcriqn0NMa0uKrHLwfwI130_assertion> ?p ?o ?g. }
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- NP777257.RAb83LWaeg-tcgkp_n6B8Et-wXcriqn0NMa0uKrHLwfwI130_assertion type Assertion NP777257.RAb83LWaeg-tcgkp_n6B8Et-wXcriqn0NMa0uKrHLwfwI130_head.
- NP777257.RAb83LWaeg-tcgkp_n6B8Et-wXcriqn0NMa0uKrHLwfwI130_assertion wasGeneratedBy ECO_0000203 NP777257.RAb83LWaeg-tcgkp_n6B8Et-wXcriqn0NMa0uKrHLwfwI130_provenance.
- NP777257.RAb83LWaeg-tcgkp_n6B8Et-wXcriqn0NMa0uKrHLwfwI130_assertion wasDerivedFrom befree-2016 NP777257.RAb83LWaeg-tcgkp_n6B8Et-wXcriqn0NMa0uKrHLwfwI130_provenance.
- NP777257.RAb83LWaeg-tcgkp_n6B8Et-wXcriqn0NMa0uKrHLwfwI130_assertion SIO_000772 19932620 NP777257.RAb83LWaeg-tcgkp_n6B8Et-wXcriqn0NMa0uKrHLwfwI130_provenance.
- NP777257.RAb83LWaeg-tcgkp_n6B8Et-wXcriqn0NMa0uKrHLwfwI130_assertion evidence source_evidence_literature NP777257.RAb83LWaeg-tcgkp_n6B8Et-wXcriqn0NMa0uKrHLwfwI130_provenance.
- NP777257.RAb83LWaeg-tcgkp_n6B8Et-wXcriqn0NMa0uKrHLwfwI130_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." NP777257.RAb83LWaeg-tcgkp_n6B8Et-wXcriqn0NMa0uKrHLwfwI130_provenance.