Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP962083.RAHFTx_MSUhlLNdipLV3k7sKs8IS2kalwtDwd3tTc1Zxw#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 9748047 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[A Chinese male infant with arthrogryposis multiplex congenita (AMC), ventricular and atrial septal defects, and Werdnig-Hoffmann disease (WHD) had deletions of the telomeric copy of the survival motor neuron (SMN(T)) and neuronal apoptosis inhibitory protein genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.