Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1245817.RApa2N_z_giBE-kmwzoHuDakW-BMGRrUO2mPNlKfZeTy0130_assertion> ?p ?o ?g. }
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- NP1245817.RApa2N_z_giBE-kmwzoHuDakW-BMGRrUO2mPNlKfZeTy0130_assertion type Assertion NP1245817.RApa2N_z_giBE-kmwzoHuDakW-BMGRrUO2mPNlKfZeTy0130_head.
- NP1245817.RApa2N_z_giBE-kmwzoHuDakW-BMGRrUO2mPNlKfZeTy0130_assertion description "[Dominantly inherited mutations of DYNC1H1 have been reported to cause spinal muscular atrophy with predominance of lower extremity involvement and Charcot-Marie-Tooth type 2O.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1245817.RApa2N_z_giBE-kmwzoHuDakW-BMGRrUO2mPNlKfZeTy0130_provenance.
- NP1245817.RApa2N_z_giBE-kmwzoHuDakW-BMGRrUO2mPNlKfZeTy0130_assertion evidence source_evidence_literature NP1245817.RApa2N_z_giBE-kmwzoHuDakW-BMGRrUO2mPNlKfZeTy0130_provenance.
- NP1245817.RApa2N_z_giBE-kmwzoHuDakW-BMGRrUO2mPNlKfZeTy0130_assertion SIO_000772 25484024 NP1245817.RApa2N_z_giBE-kmwzoHuDakW-BMGRrUO2mPNlKfZeTy0130_provenance.
- NP1245817.RApa2N_z_giBE-kmwzoHuDakW-BMGRrUO2mPNlKfZeTy0130_assertion wasDerivedFrom befree-2016 NP1245817.RApa2N_z_giBE-kmwzoHuDakW-BMGRrUO2mPNlKfZeTy0130_provenance.
- NP1245817.RApa2N_z_giBE-kmwzoHuDakW-BMGRrUO2mPNlKfZeTy0130_assertion wasGeneratedBy ECO_0000203 NP1245817.RApa2N_z_giBE-kmwzoHuDakW-BMGRrUO2mPNlKfZeTy0130_provenance.