Matches in Nanopublications for { ?s ?p "[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."@en ?g. }
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- 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.