Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP590942.RAUqlMbdcIzijf1LaLxjTJPw4zZ3RPLXxsnefXVO3SefA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP590942.RAUqlMbdcIzijf1LaLxjTJPw4zZ3RPLXxsnefXVO3SefA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP590942.RAUqlMbdcIzijf1LaLxjTJPw4zZ3RPLXxsnefXVO3SefA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP590942.RAUqlMbdcIzijf1LaLxjTJPw4zZ3RPLXxsnefXVO3SefA130_provenance.
- NP590942.RAUqlMbdcIzijf1LaLxjTJPw4zZ3RPLXxsnefXVO3SefA130_assertion description "[(1,2) To date, the same homozygous deletion in TBCE (155-166del) has been reported in all Saudi Arabian patients with HRD(1) as well as in all Saudi Arabian patients with Kenny-Caffey syndrome (OMIM #244460),(1) a syndrome with a phenotype that resembles that of HRD but is characterized by the presence of normal intelligence, late closure of the anterior fontanelle, macrocephaly, and postnatal (rather than prenatal) growth retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP590942.RAUqlMbdcIzijf1LaLxjTJPw4zZ3RPLXxsnefXVO3SefA130_provenance.
- NP590942.RAUqlMbdcIzijf1LaLxjTJPw4zZ3RPLXxsnefXVO3SefA130_assertion evidence source_evidence_literature NP590942.RAUqlMbdcIzijf1LaLxjTJPw4zZ3RPLXxsnefXVO3SefA130_provenance.
- NP590942.RAUqlMbdcIzijf1LaLxjTJPw4zZ3RPLXxsnefXVO3SefA130_assertion SIO_000772 17257873 NP590942.RAUqlMbdcIzijf1LaLxjTJPw4zZ3RPLXxsnefXVO3SefA130_provenance.
- NP590942.RAUqlMbdcIzijf1LaLxjTJPw4zZ3RPLXxsnefXVO3SefA130_assertion wasDerivedFrom befree-2016 NP590942.RAUqlMbdcIzijf1LaLxjTJPw4zZ3RPLXxsnefXVO3SefA130_provenance.
- NP590942.RAUqlMbdcIzijf1LaLxjTJPw4zZ3RPLXxsnefXVO3SefA130_assertion wasGeneratedBy ECO_0000203 NP590942.RAUqlMbdcIzijf1LaLxjTJPw4zZ3RPLXxsnefXVO3SefA130_provenance.
- befree-2016 importedOn "2016-02-19" NP590942.RAUqlMbdcIzijf1LaLxjTJPw4zZ3RPLXxsnefXVO3SefA130_provenance.