Matches in Nanopublications for { ?s ?p "[A young patient diagnosed with a congenital disorder of glycosylation characterized by an intracellular accumulation of DolPP-GlcNAc(2)Man(5) was found to carry a homozygous point mutation in the RFT1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP301403.RAhDluExSiuVl_UapTLtprAe6qYzvOgDtza5gV_SW6jc0130_assertion description "[A young patient diagnosed with a congenital disorder of glycosylation characterized by an intracellular accumulation of DolPP-GlcNAc(2)Man(5) was found to carry a homozygous point mutation in the RFT1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP301403.RAhDluExSiuVl_UapTLtprAe6qYzvOgDtza5gV_SW6jc0130_provenance.
- NP466652.RAwCg3xXwF6MTvxQGpCxbeSigiexXFrSnVX7goAiJEXiI130_assertion description "[A young patient diagnosed with a congenital disorder of glycosylation characterized by an intracellular accumulation of DolPP-GlcNAc(2)Man(5) was found to carry a homozygous point mutation in the RFT1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP466652.RAwCg3xXwF6MTvxQGpCxbeSigiexXFrSnVX7goAiJEXiI130_provenance.
- NP961059.RAp7XhDeKK5qh79TBqnNUtsj8m_zh3FiisIHlbt4mwJnY130_assertion description "[A young patient diagnosed with a congenital disorder of glycosylation characterized by an intracellular accumulation of DolPP-GlcNAc(2)Man(5) was found to carry a homozygous point mutation in the RFT1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP961059.RAp7XhDeKK5qh79TBqnNUtsj8m_zh3FiisIHlbt4mwJnY130_provenance.
- NP916277.RAtDMViZIZQgofCNQPH_qVhfowNVGSjx7O5cY_uqHgdDk130_assertion description "[A young patient diagnosed with a congenital disorder of glycosylation characterized by an intracellular accumulation of DolPP-GlcNAc(2)Man(5) was found to carry a homozygous point mutation in the RFT1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP916277.RAtDMViZIZQgofCNQPH_qVhfowNVGSjx7O5cY_uqHgdDk130_provenance.