Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP699653.RAq-GUC_gOmSc_ZQmCe_bkcAVPimFHVj2T5c70KQmXEiE130_assertion> ?p ?o ?g. }
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- NP699653.RAq-GUC_gOmSc_ZQmCe_bkcAVPimFHVj2T5c70KQmXEiE130_assertion type Assertion NP699653.RAq-GUC_gOmSc_ZQmCe_bkcAVPimFHVj2T5c70KQmXEiE130_head.
- NP699653.RAq-GUC_gOmSc_ZQmCe_bkcAVPimFHVj2T5c70KQmXEiE130_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." NP699653.RAq-GUC_gOmSc_ZQmCe_bkcAVPimFHVj2T5c70KQmXEiE130_provenance.
- NP699653.RAq-GUC_gOmSc_ZQmCe_bkcAVPimFHVj2T5c70KQmXEiE130_assertion evidence source_evidence_literature NP699653.RAq-GUC_gOmSc_ZQmCe_bkcAVPimFHVj2T5c70KQmXEiE130_provenance.
- NP699653.RAq-GUC_gOmSc_ZQmCe_bkcAVPimFHVj2T5c70KQmXEiE130_assertion SIO_000772 21267006 NP699653.RAq-GUC_gOmSc_ZQmCe_bkcAVPimFHVj2T5c70KQmXEiE130_provenance.
- NP699653.RAq-GUC_gOmSc_ZQmCe_bkcAVPimFHVj2T5c70KQmXEiE130_assertion wasDerivedFrom befree-20150227 NP699653.RAq-GUC_gOmSc_ZQmCe_bkcAVPimFHVj2T5c70KQmXEiE130_provenance.
- NP699653.RAq-GUC_gOmSc_ZQmCe_bkcAVPimFHVj2T5c70KQmXEiE130_assertion wasGeneratedBy ECO_0000203 NP699653.RAq-GUC_gOmSc_ZQmCe_bkcAVPimFHVj2T5c70KQmXEiE130_provenance.