Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP417245.RAkEYWj2FVPvZUUfwIq4QCE1qNG-K9-ajE8V5iuoP4E0A130_assertion> ?p ?o ?g. }
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- NP417245.RAkEYWj2FVPvZUUfwIq4QCE1qNG-K9-ajE8V5iuoP4E0A130_assertion type Assertion NP417245.RAkEYWj2FVPvZUUfwIq4QCE1qNG-K9-ajE8V5iuoP4E0A130_head.
- NP417245.RAkEYWj2FVPvZUUfwIq4QCE1qNG-K9-ajE8V5iuoP4E0A130_assertion description "[A 20 year old male patient with sporadic neurofibromatosis type 1 (NF1) is described with a large deletion (1.5 Mb) involving the NF1 gene, dysmorphism, mental retardation, and unusual ocular and skeletal features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP417245.RAkEYWj2FVPvZUUfwIq4QCE1qNG-K9-ajE8V5iuoP4E0A130_provenance.
- NP417245.RAkEYWj2FVPvZUUfwIq4QCE1qNG-K9-ajE8V5iuoP4E0A130_assertion evidence source_evidence_literature NP417245.RAkEYWj2FVPvZUUfwIq4QCE1qNG-K9-ajE8V5iuoP4E0A130_provenance.
- NP417245.RAkEYWj2FVPvZUUfwIq4QCE1qNG-K9-ajE8V5iuoP4E0A130_assertion SIO_000772 14564162 NP417245.RAkEYWj2FVPvZUUfwIq4QCE1qNG-K9-ajE8V5iuoP4E0A130_provenance.
- NP417245.RAkEYWj2FVPvZUUfwIq4QCE1qNG-K9-ajE8V5iuoP4E0A130_assertion wasDerivedFrom befree-2016 NP417245.RAkEYWj2FVPvZUUfwIq4QCE1qNG-K9-ajE8V5iuoP4E0A130_provenance.
- NP417245.RAkEYWj2FVPvZUUfwIq4QCE1qNG-K9-ajE8V5iuoP4E0A130_assertion wasGeneratedBy ECO_0000203 NP417245.RAkEYWj2FVPvZUUfwIq4QCE1qNG-K9-ajE8V5iuoP4E0A130_provenance.