Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP519879.RAmjoYEj1yJQ4W7qy6q_NGFKjpVLdck82XnpnyBw72UPU130_assertion> ?p ?o ?g. }
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- NP519879.RAmjoYEj1yJQ4W7qy6q_NGFKjpVLdck82XnpnyBw72UPU130_assertion type Assertion NP519879.RAmjoYEj1yJQ4W7qy6q_NGFKjpVLdck82XnpnyBw72UPU130_head.
- NP519879.RAmjoYEj1yJQ4W7qy6q_NGFKjpVLdck82XnpnyBw72UPU130_assertion description "[Germline loss-of-function (LOF) JAK3 and MPL mutations cause severe combined immunodeficiency and congenital amegakaryocytic thrombocytopenia, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519879.RAmjoYEj1yJQ4W7qy6q_NGFKjpVLdck82XnpnyBw72UPU130_provenance.
- NP519879.RAmjoYEj1yJQ4W7qy6q_NGFKjpVLdck82XnpnyBw72UPU130_assertion evidence source_evidence_literature NP519879.RAmjoYEj1yJQ4W7qy6q_NGFKjpVLdck82XnpnyBw72UPU130_provenance.
- NP519879.RAmjoYEj1yJQ4W7qy6q_NGFKjpVLdck82XnpnyBw72UPU130_assertion SIO_000772 18297515 NP519879.RAmjoYEj1yJQ4W7qy6q_NGFKjpVLdck82XnpnyBw72UPU130_provenance.
- NP519879.RAmjoYEj1yJQ4W7qy6q_NGFKjpVLdck82XnpnyBw72UPU130_assertion wasDerivedFrom befree-20150227 NP519879.RAmjoYEj1yJQ4W7qy6q_NGFKjpVLdck82XnpnyBw72UPU130_provenance.
- NP519879.RAmjoYEj1yJQ4W7qy6q_NGFKjpVLdck82XnpnyBw72UPU130_assertion wasGeneratedBy ECO_0000203 NP519879.RAmjoYEj1yJQ4W7qy6q_NGFKjpVLdck82XnpnyBw72UPU130_provenance.