Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP257605.RAz8mbey_C4gjE6YialQzQw7uKrEgeAVNQvDAt48mzDlI130_assertion> ?p ?o ?g. }
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- NP257605.RAz8mbey_C4gjE6YialQzQw7uKrEgeAVNQvDAt48mzDlI130_assertion type Assertion NP257605.RAz8mbey_C4gjE6YialQzQw7uKrEgeAVNQvDAt48mzDlI130_head.
- NP257605.RAz8mbey_C4gjE6YialQzQw7uKrEgeAVNQvDAt48mzDlI130_assertion description "[For four mutations affecting ATRX (p.1761M>T), PQBP1 (p.155R>X) and SLC6A8 (p.390P>L and p.477S>L), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP257605.RAz8mbey_C4gjE6YialQzQw7uKrEgeAVNQvDAt48mzDlI130_provenance.
- NP257605.RAz8mbey_C4gjE6YialQzQw7uKrEgeAVNQvDAt48mzDlI130_assertion evidence source_evidence_literature NP257605.RAz8mbey_C4gjE6YialQzQw7uKrEgeAVNQvDAt48mzDlI130_provenance.
- NP257605.RAz8mbey_C4gjE6YialQzQw7uKrEgeAVNQvDAt48mzDlI130_assertion SIO_000772 21267006 NP257605.RAz8mbey_C4gjE6YialQzQw7uKrEgeAVNQvDAt48mzDlI130_provenance.
- NP257605.RAz8mbey_C4gjE6YialQzQw7uKrEgeAVNQvDAt48mzDlI130_assertion wasDerivedFrom befree-20150227 NP257605.RAz8mbey_C4gjE6YialQzQw7uKrEgeAVNQvDAt48mzDlI130_provenance.
- NP257605.RAz8mbey_C4gjE6YialQzQw7uKrEgeAVNQvDAt48mzDlI130_assertion wasGeneratedBy ECO_0000203 NP257605.RAz8mbey_C4gjE6YialQzQw7uKrEgeAVNQvDAt48mzDlI130_provenance.