Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP514336.RA-piOuVNTGADU1Ow9hhBIKoDglHMx5_w8ndoEZPJNdZE130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP514336.RA-piOuVNTGADU1Ow9hhBIKoDglHMx5_w8ndoEZPJNdZE130_assertion type Assertion NP514336.RA-piOuVNTGADU1Ow9hhBIKoDglHMx5_w8ndoEZPJNdZE130_head.
- NP514336.RA-piOuVNTGADU1Ow9hhBIKoDglHMx5_w8ndoEZPJNdZE130_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." NP514336.RA-piOuVNTGADU1Ow9hhBIKoDglHMx5_w8ndoEZPJNdZE130_provenance.
- NP514336.RA-piOuVNTGADU1Ow9hhBIKoDglHMx5_w8ndoEZPJNdZE130_assertion evidence source_evidence_literature NP514336.RA-piOuVNTGADU1Ow9hhBIKoDglHMx5_w8ndoEZPJNdZE130_provenance.
- NP514336.RA-piOuVNTGADU1Ow9hhBIKoDglHMx5_w8ndoEZPJNdZE130_assertion SIO_000772 19409520 NP514336.RA-piOuVNTGADU1Ow9hhBIKoDglHMx5_w8ndoEZPJNdZE130_provenance.
- NP514336.RA-piOuVNTGADU1Ow9hhBIKoDglHMx5_w8ndoEZPJNdZE130_assertion wasDerivedFrom befree-20140225 NP514336.RA-piOuVNTGADU1Ow9hhBIKoDglHMx5_w8ndoEZPJNdZE130_provenance.
- NP514336.RA-piOuVNTGADU1Ow9hhBIKoDglHMx5_w8ndoEZPJNdZE130_assertion wasGeneratedBy ECO_0000203 NP514336.RA-piOuVNTGADU1Ow9hhBIKoDglHMx5_w8ndoEZPJNdZE130_provenance.