Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP541159.RAy1estDNmWLnbhc2bJswO-56O7u3a2nl9g7eDqgZybEE130_assertion> ?p ?o ?g. }
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- NP541159.RAy1estDNmWLnbhc2bJswO-56O7u3a2nl9g7eDqgZybEE130_assertion type Assertion NP541159.RAy1estDNmWLnbhc2bJswO-56O7u3a2nl9g7eDqgZybEE130_head.
- NP541159.RAy1estDNmWLnbhc2bJswO-56O7u3a2nl9g7eDqgZybEE130_assertion description "[Hypomorphic mutations in NBN (previously known as NBS1) and MRE11A give rise to the autosomal-recessive diseases Nijmegen breakage syndrome (NBS) and ataxia-telangiectasia-like disorder (ATLD), respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP541159.RAy1estDNmWLnbhc2bJswO-56O7u3a2nl9g7eDqgZybEE130_provenance.
- NP541159.RAy1estDNmWLnbhc2bJswO-56O7u3a2nl9g7eDqgZybEE130_assertion evidence source_evidence_literature NP541159.RAy1estDNmWLnbhc2bJswO-56O7u3a2nl9g7eDqgZybEE130_provenance.
- NP541159.RAy1estDNmWLnbhc2bJswO-56O7u3a2nl9g7eDqgZybEE130_assertion SIO_000772 19409520 NP541159.RAy1estDNmWLnbhc2bJswO-56O7u3a2nl9g7eDqgZybEE130_provenance.
- NP541159.RAy1estDNmWLnbhc2bJswO-56O7u3a2nl9g7eDqgZybEE130_assertion wasDerivedFrom befree-20140225 NP541159.RAy1estDNmWLnbhc2bJswO-56O7u3a2nl9g7eDqgZybEE130_provenance.
- NP541159.RAy1estDNmWLnbhc2bJswO-56O7u3a2nl9g7eDqgZybEE130_assertion wasGeneratedBy ECO_0000203 NP541159.RAy1estDNmWLnbhc2bJswO-56O7u3a2nl9g7eDqgZybEE130_provenance.