Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1143947.RADn1zJJFLzCdni4SHhBylmaWBPYCn7Hbmkj18e9Aj114130_assertion> ?p ?o ?g. }
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- NP1143947.RADn1zJJFLzCdni4SHhBylmaWBPYCn7Hbmkj18e9Aj114130_assertion type Assertion NP1143947.RADn1zJJFLzCdni4SHhBylmaWBPYCn7Hbmkj18e9Aj114130_head.
- NP1143947.RADn1zJJFLzCdni4SHhBylmaWBPYCn7Hbmkj18e9Aj114130_assertion wasGeneratedBy ECO_0000203 NP1143947.RADn1zJJFLzCdni4SHhBylmaWBPYCn7Hbmkj18e9Aj114130_provenance.
- NP1143947.RADn1zJJFLzCdni4SHhBylmaWBPYCn7Hbmkj18e9Aj114130_assertion wasDerivedFrom befree-2016 NP1143947.RADn1zJJFLzCdni4SHhBylmaWBPYCn7Hbmkj18e9Aj114130_provenance.
- NP1143947.RADn1zJJFLzCdni4SHhBylmaWBPYCn7Hbmkj18e9Aj114130_assertion SIO_000772 24412318 NP1143947.RADn1zJJFLzCdni4SHhBylmaWBPYCn7Hbmkj18e9Aj114130_provenance.
- NP1143947.RADn1zJJFLzCdni4SHhBylmaWBPYCn7Hbmkj18e9Aj114130_assertion evidence source_evidence_literature NP1143947.RADn1zJJFLzCdni4SHhBylmaWBPYCn7Hbmkj18e9Aj114130_provenance.
- NP1143947.RADn1zJJFLzCdni4SHhBylmaWBPYCn7Hbmkj18e9Aj114130_assertion description "[The 2q31.1 deletion resulted in the loss of one copy of several known disease genes, including GAD1, DCAF17, SLC25A12 and ITGA6 associated with mental retardation and facial abnormalities and DLX1/DLX2 partially associated with limb abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1143947.RADn1zJJFLzCdni4SHhBylmaWBPYCn7Hbmkj18e9Aj114130_provenance.