Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP988522.RASbwn71FC_L73Ed0lhKpnybo_nQTT4FJFOQDW1v-me54130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP988522.RASbwn71FC_L73Ed0lhKpnybo_nQTT4FJFOQDW1v-me54130_assertion type Assertion NP988522.RASbwn71FC_L73Ed0lhKpnybo_nQTT4FJFOQDW1v-me54130_head.
- NP988522.RASbwn71FC_L73Ed0lhKpnybo_nQTT4FJFOQDW1v-me54130_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." NP988522.RASbwn71FC_L73Ed0lhKpnybo_nQTT4FJFOQDW1v-me54130_provenance.
- NP988522.RASbwn71FC_L73Ed0lhKpnybo_nQTT4FJFOQDW1v-me54130_assertion evidence source_evidence_literature NP988522.RASbwn71FC_L73Ed0lhKpnybo_nQTT4FJFOQDW1v-me54130_provenance.
- NP988522.RASbwn71FC_L73Ed0lhKpnybo_nQTT4FJFOQDW1v-me54130_assertion SIO_000772 22683086 NP988522.RASbwn71FC_L73Ed0lhKpnybo_nQTT4FJFOQDW1v-me54130_provenance.
- NP988522.RASbwn71FC_L73Ed0lhKpnybo_nQTT4FJFOQDW1v-me54130_assertion wasDerivedFrom befree-2016 NP988522.RASbwn71FC_L73Ed0lhKpnybo_nQTT4FJFOQDW1v-me54130_provenance.
- NP988522.RASbwn71FC_L73Ed0lhKpnybo_nQTT4FJFOQDW1v-me54130_assertion wasGeneratedBy ECO_0000203 NP988522.RASbwn71FC_L73Ed0lhKpnybo_nQTT4FJFOQDW1v-me54130_provenance.