Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP723776.RAUpnmTpRiVrLZOY8cUBjKr-Lox_jgGryahLSPgu0zWBU130_assertion> ?p ?o ?g. }
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- NP723776.RAUpnmTpRiVrLZOY8cUBjKr-Lox_jgGryahLSPgu0zWBU130_assertion type Assertion NP723776.RAUpnmTpRiVrLZOY8cUBjKr-Lox_jgGryahLSPgu0zWBU130_head.
- NP723776.RAUpnmTpRiVrLZOY8cUBjKr-Lox_jgGryahLSPgu0zWBU130_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." NP723776.RAUpnmTpRiVrLZOY8cUBjKr-Lox_jgGryahLSPgu0zWBU130_provenance.
- NP723776.RAUpnmTpRiVrLZOY8cUBjKr-Lox_jgGryahLSPgu0zWBU130_assertion evidence source_evidence_literature NP723776.RAUpnmTpRiVrLZOY8cUBjKr-Lox_jgGryahLSPgu0zWBU130_provenance.
- NP723776.RAUpnmTpRiVrLZOY8cUBjKr-Lox_jgGryahLSPgu0zWBU130_assertion SIO_000772 17257873 NP723776.RAUpnmTpRiVrLZOY8cUBjKr-Lox_jgGryahLSPgu0zWBU130_provenance.
- NP723776.RAUpnmTpRiVrLZOY8cUBjKr-Lox_jgGryahLSPgu0zWBU130_assertion wasDerivedFrom befree-20150227 NP723776.RAUpnmTpRiVrLZOY8cUBjKr-Lox_jgGryahLSPgu0zWBU130_provenance.
- NP723776.RAUpnmTpRiVrLZOY8cUBjKr-Lox_jgGryahLSPgu0zWBU130_assertion wasGeneratedBy ECO_0000203 NP723776.RAUpnmTpRiVrLZOY8cUBjKr-Lox_jgGryahLSPgu0zWBU130_provenance.