Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP548078.RAzFutzr2jMQQ0ITysoJp7eLWhmprE_sv2--kNzg7Q1nk130_assertion> ?p ?o ?g. }
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- NP548078.RAzFutzr2jMQQ0ITysoJp7eLWhmprE_sv2--kNzg7Q1nk130_assertion type Assertion NP548078.RAzFutzr2jMQQ0ITysoJp7eLWhmprE_sv2--kNzg7Q1nk130_head.
- NP548078.RAzFutzr2jMQQ0ITysoJp7eLWhmprE_sv2--kNzg7Q1nk130_assertion description "[An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP548078.RAzFutzr2jMQQ0ITysoJp7eLWhmprE_sv2--kNzg7Q1nk130_provenance.
- NP548078.RAzFutzr2jMQQ0ITysoJp7eLWhmprE_sv2--kNzg7Q1nk130_assertion evidence source_evidence_literature NP548078.RAzFutzr2jMQQ0ITysoJp7eLWhmprE_sv2--kNzg7Q1nk130_provenance.
- NP548078.RAzFutzr2jMQQ0ITysoJp7eLWhmprE_sv2--kNzg7Q1nk130_assertion SIO_000772 16671097 NP548078.RAzFutzr2jMQQ0ITysoJp7eLWhmprE_sv2--kNzg7Q1nk130_provenance.
- NP548078.RAzFutzr2jMQQ0ITysoJp7eLWhmprE_sv2--kNzg7Q1nk130_assertion wasDerivedFrom befree-2016 NP548078.RAzFutzr2jMQQ0ITysoJp7eLWhmprE_sv2--kNzg7Q1nk130_provenance.
- NP548078.RAzFutzr2jMQQ0ITysoJp7eLWhmprE_sv2--kNzg7Q1nk130_assertion wasGeneratedBy ECO_0000203 NP548078.RAzFutzr2jMQQ0ITysoJp7eLWhmprE_sv2--kNzg7Q1nk130_provenance.