Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP723934.RAdZE7MsKIgzhVE4fi3zq5HVf0MzhzpMabjdQ-B82qyK0130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP723934.RAdZE7MsKIgzhVE4fi3zq5HVf0MzhzpMabjdQ-B82qyK0130_assertion type Assertion NP723934.RAdZE7MsKIgzhVE4fi3zq5HVf0MzhzpMabjdQ-B82qyK0130_head.
- NP723934.RAdZE7MsKIgzhVE4fi3zq5HVf0MzhzpMabjdQ-B82qyK0130_assertion description "[Hyperphosphatasia with mental retardation syndrome (HPMRS), an autosomal-recessive form of intellectual disability characterized by facial dysmorphism, seizures, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia), was recently shown to be caused by mutations in PIGV, a member of the glycosylphosphatidylinositol (GPI)-anchor-synthesis pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP723934.RAdZE7MsKIgzhVE4fi3zq5HVf0MzhzpMabjdQ-B82qyK0130_provenance.
- NP723934.RAdZE7MsKIgzhVE4fi3zq5HVf0MzhzpMabjdQ-B82qyK0130_assertion evidence source_evidence_literature NP723934.RAdZE7MsKIgzhVE4fi3zq5HVf0MzhzpMabjdQ-B82qyK0130_provenance.
- NP723934.RAdZE7MsKIgzhVE4fi3zq5HVf0MzhzpMabjdQ-B82qyK0130_assertion SIO_000772 22683086 NP723934.RAdZE7MsKIgzhVE4fi3zq5HVf0MzhzpMabjdQ-B82qyK0130_provenance.
- NP723934.RAdZE7MsKIgzhVE4fi3zq5HVf0MzhzpMabjdQ-B82qyK0130_assertion wasDerivedFrom befree-20140225 NP723934.RAdZE7MsKIgzhVE4fi3zq5HVf0MzhzpMabjdQ-B82qyK0130_provenance.
- NP723934.RAdZE7MsKIgzhVE4fi3zq5HVf0MzhzpMabjdQ-B82qyK0130_assertion wasGeneratedBy ECO_0000203 NP723934.RAdZE7MsKIgzhVE4fi3zq5HVf0MzhzpMabjdQ-B82qyK0130_provenance.