Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP295342.RADw3gBXhOnWk_hTZnmpEQDgte2JK-MEZEfPcUqiwRql0130_assertion> ?p ?o ?g. }
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- NP295342.RADw3gBXhOnWk_hTZnmpEQDgte2JK-MEZEfPcUqiwRql0130_assertion type Assertion NP295342.RADw3gBXhOnWk_hTZnmpEQDgte2JK-MEZEfPcUqiwRql0130_head.
- NP295342.RADw3gBXhOnWk_hTZnmpEQDgte2JK-MEZEfPcUqiwRql0130_assertion wasGeneratedBy ECO_0000203 NP295342.RADw3gBXhOnWk_hTZnmpEQDgte2JK-MEZEfPcUqiwRql0130_provenance.
- NP295342.RADw3gBXhOnWk_hTZnmpEQDgte2JK-MEZEfPcUqiwRql0130_assertion wasDerivedFrom befree-20150227 NP295342.RADw3gBXhOnWk_hTZnmpEQDgte2JK-MEZEfPcUqiwRql0130_provenance.
- NP295342.RADw3gBXhOnWk_hTZnmpEQDgte2JK-MEZEfPcUqiwRql0130_assertion SIO_000772 15319456 NP295342.RADw3gBXhOnWk_hTZnmpEQDgte2JK-MEZEfPcUqiwRql0130_provenance.
- NP295342.RADw3gBXhOnWk_hTZnmpEQDgte2JK-MEZEfPcUqiwRql0130_assertion evidence source_evidence_literature NP295342.RADw3gBXhOnWk_hTZnmpEQDgte2JK-MEZEfPcUqiwRql0130_provenance.
- NP295342.RADw3gBXhOnWk_hTZnmpEQDgte2JK-MEZEfPcUqiwRql0130_assertion description "[Mutations of CD40, the receptor for CD40L, cause a rare autosomal form of HIGM with a clinical phenotype similar to CD40L deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP295342.RADw3gBXhOnWk_hTZnmpEQDgte2JK-MEZEfPcUqiwRql0130_provenance.