Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP494708.RAgXEsILq_ybF4yzDicI-7_XTBy6Ws3-UfkFPTiX67Lxw130_assertion> ?p ?o ?g. }
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- NP494708.RAgXEsILq_ybF4yzDicI-7_XTBy6Ws3-UfkFPTiX67Lxw130_assertion type Assertion NP494708.RAgXEsILq_ybF4yzDicI-7_XTBy6Ws3-UfkFPTiX67Lxw130_head.
- NP494708.RAgXEsILq_ybF4yzDicI-7_XTBy6Ws3-UfkFPTiX67Lxw130_assertion description "[Three individuals were affected by a juvenile-onset form of complicated ARHSP due to the missense mutation c.2075G>C in exon 15 of the SPG7 gene in the homozygous state, substituting serine with threonine at codon 692.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP494708.RAgXEsILq_ybF4yzDicI-7_XTBy6Ws3-UfkFPTiX67Lxw130_provenance.
- NP494708.RAgXEsILq_ybF4yzDicI-7_XTBy6Ws3-UfkFPTiX67Lxw130_assertion evidence source_evidence_literature NP494708.RAgXEsILq_ybF4yzDicI-7_XTBy6Ws3-UfkFPTiX67Lxw130_provenance.
- NP494708.RAgXEsILq_ybF4yzDicI-7_XTBy6Ws3-UfkFPTiX67Lxw130_assertion SIO_000772 17646629 NP494708.RAgXEsILq_ybF4yzDicI-7_XTBy6Ws3-UfkFPTiX67Lxw130_provenance.
- NP494708.RAgXEsILq_ybF4yzDicI-7_XTBy6Ws3-UfkFPTiX67Lxw130_assertion wasDerivedFrom befree-20140225 NP494708.RAgXEsILq_ybF4yzDicI-7_XTBy6Ws3-UfkFPTiX67Lxw130_provenance.
- NP494708.RAgXEsILq_ybF4yzDicI-7_XTBy6Ws3-UfkFPTiX67Lxw130_assertion wasGeneratedBy ECO_0000203 NP494708.RAgXEsILq_ybF4yzDicI-7_XTBy6Ws3-UfkFPTiX67Lxw130_provenance.