Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP301403.RAhDluExSiuVl_UapTLtprAe6qYzvOgDtza5gV_SW6jc0130_assertion> ?p ?o ?g. }
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- NP301403.RAhDluExSiuVl_UapTLtprAe6qYzvOgDtza5gV_SW6jc0130_assertion type Assertion NP301403.RAhDluExSiuVl_UapTLtprAe6qYzvOgDtza5gV_SW6jc0130_head.
- 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.
- NP301403.RAhDluExSiuVl_UapTLtprAe6qYzvOgDtza5gV_SW6jc0130_assertion evidence source_evidence_literature NP301403.RAhDluExSiuVl_UapTLtprAe6qYzvOgDtza5gV_SW6jc0130_provenance.
- NP301403.RAhDluExSiuVl_UapTLtprAe6qYzvOgDtza5gV_SW6jc0130_assertion SIO_000772 18313027 NP301403.RAhDluExSiuVl_UapTLtprAe6qYzvOgDtza5gV_SW6jc0130_provenance.
- NP301403.RAhDluExSiuVl_UapTLtprAe6qYzvOgDtza5gV_SW6jc0130_assertion wasDerivedFrom befree-20140225 NP301403.RAhDluExSiuVl_UapTLtprAe6qYzvOgDtza5gV_SW6jc0130_provenance.
- NP301403.RAhDluExSiuVl_UapTLtprAe6qYzvOgDtza5gV_SW6jc0130_assertion wasGeneratedBy ECO_0000203 NP301403.RAhDluExSiuVl_UapTLtprAe6qYzvOgDtza5gV_SW6jc0130_provenance.