Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP536754.RAqxXZiKAX7igQfrWL-YnZKF0RojIyUuZrcWEPQe3pasI130_assertion> ?p ?o ?g. }
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- NP536754.RAqxXZiKAX7igQfrWL-YnZKF0RojIyUuZrcWEPQe3pasI130_assertion type Assertion NP536754.RAqxXZiKAX7igQfrWL-YnZKF0RojIyUuZrcWEPQe3pasI130_head.
- NP536754.RAqxXZiKAX7igQfrWL-YnZKF0RojIyUuZrcWEPQe3pasI130_assertion wasGeneratedBy ECO_0000203 NP536754.RAqxXZiKAX7igQfrWL-YnZKF0RojIyUuZrcWEPQe3pasI130_provenance.
- NP536754.RAqxXZiKAX7igQfrWL-YnZKF0RojIyUuZrcWEPQe3pasI130_assertion wasDerivedFrom befree-20150227 NP536754.RAqxXZiKAX7igQfrWL-YnZKF0RojIyUuZrcWEPQe3pasI130_provenance.
- NP536754.RAqxXZiKAX7igQfrWL-YnZKF0RojIyUuZrcWEPQe3pasI130_assertion SIO_000772 22373003 NP536754.RAqxXZiKAX7igQfrWL-YnZKF0RojIyUuZrcWEPQe3pasI130_provenance.
- NP536754.RAqxXZiKAX7igQfrWL-YnZKF0RojIyUuZrcWEPQe3pasI130_assertion evidence source_evidence_literature NP536754.RAqxXZiKAX7igQfrWL-YnZKF0RojIyUuZrcWEPQe3pasI130_provenance.
- NP536754.RAqxXZiKAX7igQfrWL-YnZKF0RojIyUuZrcWEPQe3pasI130_assertion description "[Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP536754.RAqxXZiKAX7igQfrWL-YnZKF0RojIyUuZrcWEPQe3pasI130_provenance.