Matches in Nanopublications for { ?s ?p "[The patient had compound heterozygous mutations of the GLB1 gene: c.13_14insA (p.L5HfsX29), which was reported in a patient with infantile GM1 gangliosidosis with the near-complete absence of enzyme activity, and c.367G>A (p.G123R), which is a novel frame-shift mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP722456.RATVT-25i5--xLKbSDyYzNMmY5zctSuaEOCF7oAhMo0EM130_assertion description "[The patient had compound heterozygous mutations of the GLB1 gene: c.13_14insA (p.L5HfsX29), which was reported in a patient with infantile GM1 gangliosidosis with the near-complete absence of enzyme activity, and c.367G>A (p.G123R), which is a novel frame-shift mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP722456.RATVT-25i5--xLKbSDyYzNMmY5zctSuaEOCF7oAhMo0EM130_provenance.