Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP679764.RA49ROvF9lb_rf2R8BMZ0U53xJhmlF8cThVOZdcrtfvBU130_assertion> ?p ?o ?g. }
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- NP679764.RA49ROvF9lb_rf2R8BMZ0U53xJhmlF8cThVOZdcrtfvBU130_assertion type Assertion NP679764.RA49ROvF9lb_rf2R8BMZ0U53xJhmlF8cThVOZdcrtfvBU130_head.
- NP679764.RA49ROvF9lb_rf2R8BMZ0U53xJhmlF8cThVOZdcrtfvBU130_assertion description "[Nijmegen breakage syndrome (NBS) with NBS1 germ-line mutations is a rare autosomal recessive disease with clinical features that include microcephaly, mental and growth retardation, immunodeficiency, increased radiosensitivity, and predisposition to cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP679764.RA49ROvF9lb_rf2R8BMZ0U53xJhmlF8cThVOZdcrtfvBU130_provenance.
- NP679764.RA49ROvF9lb_rf2R8BMZ0U53xJhmlF8cThVOZdcrtfvBU130_assertion evidence source_evidence_literature NP679764.RA49ROvF9lb_rf2R8BMZ0U53xJhmlF8cThVOZdcrtfvBU130_provenance.
- NP679764.RA49ROvF9lb_rf2R8BMZ0U53xJhmlF8cThVOZdcrtfvBU130_assertion SIO_000772 18593981 NP679764.RA49ROvF9lb_rf2R8BMZ0U53xJhmlF8cThVOZdcrtfvBU130_provenance.
- NP679764.RA49ROvF9lb_rf2R8BMZ0U53xJhmlF8cThVOZdcrtfvBU130_assertion wasDerivedFrom befree-2016 NP679764.RA49ROvF9lb_rf2R8BMZ0U53xJhmlF8cThVOZdcrtfvBU130_provenance.
- NP679764.RA49ROvF9lb_rf2R8BMZ0U53xJhmlF8cThVOZdcrtfvBU130_assertion wasGeneratedBy ECO_0000203 NP679764.RA49ROvF9lb_rf2R8BMZ0U53xJhmlF8cThVOZdcrtfvBU130_provenance.