Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP459276.RAssXU5xoZ3dpW6NkE-Czvdx-1mz6bUxelWURSielE-rY130_assertion> ?p ?o ?g. }
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- NP459276.RAssXU5xoZ3dpW6NkE-Czvdx-1mz6bUxelWURSielE-rY130_assertion type Assertion NP459276.RAssXU5xoZ3dpW6NkE-Czvdx-1mz6bUxelWURSielE-rY130_head.
- NP459276.RAssXU5xoZ3dpW6NkE-Czvdx-1mz6bUxelWURSielE-rY130_assertion wasGeneratedBy ECO_0000203 NP459276.RAssXU5xoZ3dpW6NkE-Czvdx-1mz6bUxelWURSielE-rY130_provenance.
- NP459276.RAssXU5xoZ3dpW6NkE-Czvdx-1mz6bUxelWURSielE-rY130_assertion wasDerivedFrom befree-2016 NP459276.RAssXU5xoZ3dpW6NkE-Czvdx-1mz6bUxelWURSielE-rY130_provenance.
- NP459276.RAssXU5xoZ3dpW6NkE-Czvdx-1mz6bUxelWURSielE-rY130_assertion SIO_000772 15358621 NP459276.RAssXU5xoZ3dpW6NkE-Czvdx-1mz6bUxelWURSielE-rY130_provenance.
- NP459276.RAssXU5xoZ3dpW6NkE-Czvdx-1mz6bUxelWURSielE-rY130_assertion evidence source_evidence_literature NP459276.RAssXU5xoZ3dpW6NkE-Czvdx-1mz6bUxelWURSielE-rY130_provenance.
- NP459276.RAssXU5xoZ3dpW6NkE-Czvdx-1mz6bUxelWURSielE-rY130_assertion description "[The hyper immunoglobulin M (IgM) syndrome (HIGM), characterized by recurrent infections, low serum IgG and IgA, normal or elevated IgM, and defective class switch recombination and somatic hypermutation, is a heterogenous disorder with at least 5 distinct molecular defects, including mutations of the genes coding for the CD40 ligand (CD40L) and IKK-gamma (NEMO) genes, both X-linked; and mutations of CD40, activation-induced cytidine deaminase (AICDA), and uracil-DNA glycosylase (UNG), associated with autosomal recessive HIGM syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP459276.RAssXU5xoZ3dpW6NkE-Czvdx-1mz6bUxelWURSielE-rY130_provenance.