Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1336089.RAWW_AvdEUKTt60g4GiyFtpqcig2maqO1nIpCnGyY-F6Q#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 22683086 provenance.
- assertion evidence source_evidence_literature provenance.
- 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." provenance.