Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP961059.RAp7XhDeKK5qh79TBqnNUtsj8m_zh3FiisIHlbt4mwJnY130_assertion> ?p ?o ?g. }
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- NP961059.RAp7XhDeKK5qh79TBqnNUtsj8m_zh3FiisIHlbt4mwJnY130_assertion type Assertion NP961059.RAp7XhDeKK5qh79TBqnNUtsj8m_zh3FiisIHlbt4mwJnY130_head.
- 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.
- NP961059.RAp7XhDeKK5qh79TBqnNUtsj8m_zh3FiisIHlbt4mwJnY130_assertion evidence source_evidence_literature NP961059.RAp7XhDeKK5qh79TBqnNUtsj8m_zh3FiisIHlbt4mwJnY130_provenance.
- NP961059.RAp7XhDeKK5qh79TBqnNUtsj8m_zh3FiisIHlbt4mwJnY130_assertion SIO_000772 18313027 NP961059.RAp7XhDeKK5qh79TBqnNUtsj8m_zh3FiisIHlbt4mwJnY130_provenance.
- NP961059.RAp7XhDeKK5qh79TBqnNUtsj8m_zh3FiisIHlbt4mwJnY130_assertion wasDerivedFrom befree-20150227 NP961059.RAp7XhDeKK5qh79TBqnNUtsj8m_zh3FiisIHlbt4mwJnY130_provenance.
- NP961059.RAp7XhDeKK5qh79TBqnNUtsj8m_zh3FiisIHlbt4mwJnY130_assertion wasGeneratedBy ECO_0000203 NP961059.RAp7XhDeKK5qh79TBqnNUtsj8m_zh3FiisIHlbt4mwJnY130_provenance.