Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP295097.RAUgs8NyR28J71Cc6xeLwLfg1icV3sPQ9OIAt6lyxfG94#assertion> ?p ?o ?g. }
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- assertion description "[Mutations in DYNC1H1 have been described in autosomal-dominant Charcot-Marie-Tooth type 2 and in families with distal spinal muscular atrophy (SMA) predominantly affecting the legs (SMA-LED).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 24307404 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.