Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP552615.RA5SoZjjN4J415rPoMcdMpGroa1KvbtEqj3N6BBcJVtH0130_assertion> ?p ?o ?g. }
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- NP552615.RA5SoZjjN4J415rPoMcdMpGroa1KvbtEqj3N6BBcJVtH0130_assertion type Assertion NP552615.RA5SoZjjN4J415rPoMcdMpGroa1KvbtEqj3N6BBcJVtH0130_head.
- NP552615.RA5SoZjjN4J415rPoMcdMpGroa1KvbtEqj3N6BBcJVtH0130_assertion description "[Mutations in the polyglutamine tract binding protein 1 gene (PQBP1) have recently been reported in four XLMR disorders (Renpenning, Hamel cerebro-palato-cardiac, Sutherland-Haan, and Porteous syndromes) as well as in several other families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP552615.RA5SoZjjN4J415rPoMcdMpGroa1KvbtEqj3N6BBcJVtH0130_provenance.
- NP552615.RA5SoZjjN4J415rPoMcdMpGroa1KvbtEqj3N6BBcJVtH0130_assertion evidence source_evidence_literature NP552615.RA5SoZjjN4J415rPoMcdMpGroa1KvbtEqj3N6BBcJVtH0130_provenance.
- NP552615.RA5SoZjjN4J415rPoMcdMpGroa1KvbtEqj3N6BBcJVtH0130_assertion SIO_000772 16740914 NP552615.RA5SoZjjN4J415rPoMcdMpGroa1KvbtEqj3N6BBcJVtH0130_provenance.
- NP552615.RA5SoZjjN4J415rPoMcdMpGroa1KvbtEqj3N6BBcJVtH0130_assertion wasDerivedFrom befree-2016 NP552615.RA5SoZjjN4J415rPoMcdMpGroa1KvbtEqj3N6BBcJVtH0130_provenance.
- NP552615.RA5SoZjjN4J415rPoMcdMpGroa1KvbtEqj3N6BBcJVtH0130_assertion wasGeneratedBy ECO_0000203 NP552615.RA5SoZjjN4J415rPoMcdMpGroa1KvbtEqj3N6BBcJVtH0130_provenance.