Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP194221.RAszewkd2KdTM8-8Sn6nEl_IcvH7OMbQrluq3ZymhC6T8130_assertion> ?p ?o ?g. }
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- NP194221.RAszewkd2KdTM8-8Sn6nEl_IcvH7OMbQrluq3ZymhC6T8130_assertion type Assertion NP194221.RAszewkd2KdTM8-8Sn6nEl_IcvH7OMbQrluq3ZymhC6T8130_head.
- NP194221.RAszewkd2KdTM8-8Sn6nEl_IcvH7OMbQrluq3ZymhC6T8130_assertion description "[A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22 (0)) leading to the activation of a cryptic splice site in intron 4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP194221.RAszewkd2KdTM8-8Sn6nEl_IcvH7OMbQrluq3ZymhC6T8130_provenance.
- NP194221.RAszewkd2KdTM8-8Sn6nEl_IcvH7OMbQrluq3ZymhC6T8130_assertion evidence source_evidence_literature NP194221.RAszewkd2KdTM8-8Sn6nEl_IcvH7OMbQrluq3ZymhC6T8130_provenance.
- NP194221.RAszewkd2KdTM8-8Sn6nEl_IcvH7OMbQrluq3ZymhC6T8130_assertion SIO_000772 12073015 NP194221.RAszewkd2KdTM8-8Sn6nEl_IcvH7OMbQrluq3ZymhC6T8130_provenance.
- NP194221.RAszewkd2KdTM8-8Sn6nEl_IcvH7OMbQrluq3ZymhC6T8130_assertion wasDerivedFrom lhgdn-20090331 NP194221.RAszewkd2KdTM8-8Sn6nEl_IcvH7OMbQrluq3ZymhC6T8130_provenance.
- NP194221.RAszewkd2KdTM8-8Sn6nEl_IcvH7OMbQrluq3ZymhC6T8130_assertion wasGeneratedBy ECO_0000203 NP194221.RAszewkd2KdTM8-8Sn6nEl_IcvH7OMbQrluq3ZymhC6T8130_provenance.