Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP585127.RAm4J5tn2l2lfl62-y7yQGgAu_C_YEnPhkqRjlFTwmUvQ130_assertion> ?p ?o ?g. }
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- NP585127.RAm4J5tn2l2lfl62-y7yQGgAu_C_YEnPhkqRjlFTwmUvQ130_assertion type Assertion NP585127.RAm4J5tn2l2lfl62-y7yQGgAu_C_YEnPhkqRjlFTwmUvQ130_head.
- NP585127.RAm4J5tn2l2lfl62-y7yQGgAu_C_YEnPhkqRjlFTwmUvQ130_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." NP585127.RAm4J5tn2l2lfl62-y7yQGgAu_C_YEnPhkqRjlFTwmUvQ130_provenance.
- NP585127.RAm4J5tn2l2lfl62-y7yQGgAu_C_YEnPhkqRjlFTwmUvQ130_assertion evidence source_evidence_literature NP585127.RAm4J5tn2l2lfl62-y7yQGgAu_C_YEnPhkqRjlFTwmUvQ130_provenance.
- NP585127.RAm4J5tn2l2lfl62-y7yQGgAu_C_YEnPhkqRjlFTwmUvQ130_assertion SIO_000772 19409520 NP585127.RAm4J5tn2l2lfl62-y7yQGgAu_C_YEnPhkqRjlFTwmUvQ130_provenance.
- NP585127.RAm4J5tn2l2lfl62-y7yQGgAu_C_YEnPhkqRjlFTwmUvQ130_assertion wasDerivedFrom befree-20150227 NP585127.RAm4J5tn2l2lfl62-y7yQGgAu_C_YEnPhkqRjlFTwmUvQ130_provenance.
- NP585127.RAm4J5tn2l2lfl62-y7yQGgAu_C_YEnPhkqRjlFTwmUvQ130_assertion wasGeneratedBy ECO_0000203 NP585127.RAm4J5tn2l2lfl62-y7yQGgAu_C_YEnPhkqRjlFTwmUvQ130_provenance.