Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP10343.RAB4uRX_cXYRAN1Zg_wJlGwboGH5RqUDYq1qnQcG4965E130_assertion> ?p ?o ?g. }
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- NP10343.RAB4uRX_cXYRAN1Zg_wJlGwboGH5RqUDYq1qnQcG4965E130_assertion type Assertion NP10343.RAB4uRX_cXYRAN1Zg_wJlGwboGH5RqUDYq1qnQcG4965E130_head.
- NP10343.RAB4uRX_cXYRAN1Zg_wJlGwboGH5RqUDYq1qnQcG4965E130_assertion wasGeneratedBy ECO_0000218 NP10343.RAB4uRX_cXYRAN1Zg_wJlGwboGH5RqUDYq1qnQcG4965E130_provenance.
- NP10343.RAB4uRX_cXYRAN1Zg_wJlGwboGH5RqUDYq1qnQcG4965E130_assertion wasDerivedFrom ctd_human-2016 NP10343.RAB4uRX_cXYRAN1Zg_wJlGwboGH5RqUDYq1qnQcG4965E130_provenance.
- NP10343.RAB4uRX_cXYRAN1Zg_wJlGwboGH5RqUDYq1qnQcG4965E130_assertion SIO_000772 10369261 NP10343.RAB4uRX_cXYRAN1Zg_wJlGwboGH5RqUDYq1qnQcG4965E130_provenance.
- NP10343.RAB4uRX_cXYRAN1Zg_wJlGwboGH5RqUDYq1qnQcG4965E130_assertion evidence source_evidence_curated NP10343.RAB4uRX_cXYRAN1Zg_wJlGwboGH5RqUDYq1qnQcG4965E130_provenance.
- NP10343.RAB4uRX_cXYRAN1Zg_wJlGwboGH5RqUDYq1qnQcG4965E130_assertion description "[Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP10343.RAB4uRX_cXYRAN1Zg_wJlGwboGH5RqUDYq1qnQcG4965E130_provenance.