Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP707521.RA5V7ABBAireAp8HDEMSVXxBZ6awVnXn3kncDi8O7MUW8#assertion> ?p ?o ?g. }
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- assertion description "[A heterozygous nonsense mutation (Tyr145Stop) corresponding to a T-to-A transition at nucleotide position 435 in exon 3 of the MPZ gene was identified in Charcot-Marie-Tooth disease type 1B patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 18663734 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.