Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1175707.RANHhVb28lG8fE3aLu8901lbkPNev2TvOZGWTUu9Sl7Rs130_assertion> ?p ?o ?g. }
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- NP1175707.RANHhVb28lG8fE3aLu8901lbkPNev2TvOZGWTUu9Sl7Rs130_assertion type Assertion NP1175707.RANHhVb28lG8fE3aLu8901lbkPNev2TvOZGWTUu9Sl7Rs130_head.
- NP1175707.RANHhVb28lG8fE3aLu8901lbkPNev2TvOZGWTUu9Sl7Rs130_assertion description "[Mutations in the gene encoding the heavy chain subunit (DYNC1H1) of cytoplasmic dynein cause spinal muscular atrophy with lower extremity predominance, Charcot-Marie-Tooth disease and intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1175707.RANHhVb28lG8fE3aLu8901lbkPNev2TvOZGWTUu9Sl7Rs130_provenance.
- NP1175707.RANHhVb28lG8fE3aLu8901lbkPNev2TvOZGWTUu9Sl7Rs130_assertion evidence source_evidence_literature NP1175707.RANHhVb28lG8fE3aLu8901lbkPNev2TvOZGWTUu9Sl7Rs130_provenance.
- NP1175707.RANHhVb28lG8fE3aLu8901lbkPNev2TvOZGWTUu9Sl7Rs130_assertion SIO_000772 24755273 NP1175707.RANHhVb28lG8fE3aLu8901lbkPNev2TvOZGWTUu9Sl7Rs130_provenance.
- NP1175707.RANHhVb28lG8fE3aLu8901lbkPNev2TvOZGWTUu9Sl7Rs130_assertion wasDerivedFrom befree-2016 NP1175707.RANHhVb28lG8fE3aLu8901lbkPNev2TvOZGWTUu9Sl7Rs130_provenance.
- NP1175707.RANHhVb28lG8fE3aLu8901lbkPNev2TvOZGWTUu9Sl7Rs130_assertion wasGeneratedBy ECO_0000203 NP1175707.RANHhVb28lG8fE3aLu8901lbkPNev2TvOZGWTUu9Sl7Rs130_provenance.