Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP266453.RArXPog2LyA6oVoKRwkZEOzAub6HXEU-_qhzA1-PRjZGA130_assertion> ?p ?o ?g. }
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- NP266453.RArXPog2LyA6oVoKRwkZEOzAub6HXEU-_qhzA1-PRjZGA130_assertion type Assertion NP266453.RArXPog2LyA6oVoKRwkZEOzAub6HXEU-_qhzA1-PRjZGA130_head.
- NP266453.RArXPog2LyA6oVoKRwkZEOzAub6HXEU-_qhzA1-PRjZGA130_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." NP266453.RArXPog2LyA6oVoKRwkZEOzAub6HXEU-_qhzA1-PRjZGA130_provenance.
- NP266453.RArXPog2LyA6oVoKRwkZEOzAub6HXEU-_qhzA1-PRjZGA130_assertion evidence source_evidence_literature NP266453.RArXPog2LyA6oVoKRwkZEOzAub6HXEU-_qhzA1-PRjZGA130_provenance.
- NP266453.RArXPog2LyA6oVoKRwkZEOzAub6HXEU-_qhzA1-PRjZGA130_assertion SIO_000772 22683086 NP266453.RArXPog2LyA6oVoKRwkZEOzAub6HXEU-_qhzA1-PRjZGA130_provenance.
- NP266453.RArXPog2LyA6oVoKRwkZEOzAub6HXEU-_qhzA1-PRjZGA130_assertion wasDerivedFrom befree-20140225 NP266453.RArXPog2LyA6oVoKRwkZEOzAub6HXEU-_qhzA1-PRjZGA130_provenance.
- NP266453.RArXPog2LyA6oVoKRwkZEOzAub6HXEU-_qhzA1-PRjZGA130_assertion wasGeneratedBy ECO_0000203 NP266453.RArXPog2LyA6oVoKRwkZEOzAub6HXEU-_qhzA1-PRjZGA130_provenance.