Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP563356.RA5sn1cjalql8AiFxKa8v_877qtw2UsDwgDNNQiSja314130_assertion> ?p ?o ?g. }
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- NP563356.RA5sn1cjalql8AiFxKa8v_877qtw2UsDwgDNNQiSja314130_assertion type Assertion NP563356.RA5sn1cjalql8AiFxKa8v_877qtw2UsDwgDNNQiSja314130_head.
- NP563356.RA5sn1cjalql8AiFxKa8v_877qtw2UsDwgDNNQiSja314130_assertion description "[We describe a previously unreported 437 T?G missense mutation producing a V146G substitution in the first coiled-coil (CC1) domain of nuclear factor-?B essential modulator (NEMO) in a 9-month-old boy with ectodermal dysplasia with immunodeficiency who presented with methicillin-resistant Staphylococcus aureus subdural empyema.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP563356.RA5sn1cjalql8AiFxKa8v_877qtw2UsDwgDNNQiSja314130_provenance.
- NP563356.RA5sn1cjalql8AiFxKa8v_877qtw2UsDwgDNNQiSja314130_assertion evidence source_evidence_literature NP563356.RA5sn1cjalql8AiFxKa8v_877qtw2UsDwgDNNQiSja314130_provenance.
- NP563356.RA5sn1cjalql8AiFxKa8v_877qtw2UsDwgDNNQiSja314130_assertion SIO_000772 20652730 NP563356.RA5sn1cjalql8AiFxKa8v_877qtw2UsDwgDNNQiSja314130_provenance.
- NP563356.RA5sn1cjalql8AiFxKa8v_877qtw2UsDwgDNNQiSja314130_assertion wasDerivedFrom befree-20140225 NP563356.RA5sn1cjalql8AiFxKa8v_877qtw2UsDwgDNNQiSja314130_provenance.
- NP563356.RA5sn1cjalql8AiFxKa8v_877qtw2UsDwgDNNQiSja314130_assertion wasGeneratedBy ECO_0000203 NP563356.RA5sn1cjalql8AiFxKa8v_877qtw2UsDwgDNNQiSja314130_provenance.