Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP919850.RA0TQqYPacNTfVpq0d6kA4886DfmukgFGkdULUsCjWdfA130_assertion> ?p ?o ?g. }
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- NP919850.RA0TQqYPacNTfVpq0d6kA4886DfmukgFGkdULUsCjWdfA130_assertion type Assertion NP919850.RA0TQqYPacNTfVpq0d6kA4886DfmukgFGkdULUsCjWdfA130_head.
- NP919850.RA0TQqYPacNTfVpq0d6kA4886DfmukgFGkdULUsCjWdfA130_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." NP919850.RA0TQqYPacNTfVpq0d6kA4886DfmukgFGkdULUsCjWdfA130_provenance.
- NP919850.RA0TQqYPacNTfVpq0d6kA4886DfmukgFGkdULUsCjWdfA130_assertion evidence source_evidence_literature NP919850.RA0TQqYPacNTfVpq0d6kA4886DfmukgFGkdULUsCjWdfA130_provenance.
- NP919850.RA0TQqYPacNTfVpq0d6kA4886DfmukgFGkdULUsCjWdfA130_assertion SIO_000772 22683086 NP919850.RA0TQqYPacNTfVpq0d6kA4886DfmukgFGkdULUsCjWdfA130_provenance.
- NP919850.RA0TQqYPacNTfVpq0d6kA4886DfmukgFGkdULUsCjWdfA130_assertion wasDerivedFrom befree-20150227 NP919850.RA0TQqYPacNTfVpq0d6kA4886DfmukgFGkdULUsCjWdfA130_provenance.
- NP919850.RA0TQqYPacNTfVpq0d6kA4886DfmukgFGkdULUsCjWdfA130_assertion wasGeneratedBy ECO_0000203 NP919850.RA0TQqYPacNTfVpq0d6kA4886DfmukgFGkdULUsCjWdfA130_provenance.