Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP583220.RAfsR93q3BG1d-UHBy9M6Z0BpmVUzh4ZP2KBUO8zoRfCM130_assertion> ?p ?o ?g. }
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- NP583220.RAfsR93q3BG1d-UHBy9M6Z0BpmVUzh4ZP2KBUO8zoRfCM130_assertion type Assertion NP583220.RAfsR93q3BG1d-UHBy9M6Z0BpmVUzh4ZP2KBUO8zoRfCM130_head.
- NP583220.RAfsR93q3BG1d-UHBy9M6Z0BpmVUzh4ZP2KBUO8zoRfCM130_assertion description "[Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disorder caused by mutations in the MVK gene resulting in deficient activity of mevalonate kinase (MK).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP583220.RAfsR93q3BG1d-UHBy9M6Z0BpmVUzh4ZP2KBUO8zoRfCM130_provenance.
- NP583220.RAfsR93q3BG1d-UHBy9M6Z0BpmVUzh4ZP2KBUO8zoRfCM130_assertion evidence source_evidence_literature NP583220.RAfsR93q3BG1d-UHBy9M6Z0BpmVUzh4ZP2KBUO8zoRfCM130_provenance.
- NP583220.RAfsR93q3BG1d-UHBy9M6Z0BpmVUzh4ZP2KBUO8zoRfCM130_assertion SIO_000772 16835861 NP583220.RAfsR93q3BG1d-UHBy9M6Z0BpmVUzh4ZP2KBUO8zoRfCM130_provenance.
- NP583220.RAfsR93q3BG1d-UHBy9M6Z0BpmVUzh4ZP2KBUO8zoRfCM130_assertion wasDerivedFrom befree-20140225 NP583220.RAfsR93q3BG1d-UHBy9M6Z0BpmVUzh4ZP2KBUO8zoRfCM130_provenance.
- NP583220.RAfsR93q3BG1d-UHBy9M6Z0BpmVUzh4ZP2KBUO8zoRfCM130_assertion wasGeneratedBy ECO_0000203 NP583220.RAfsR93q3BG1d-UHBy9M6Z0BpmVUzh4ZP2KBUO8zoRfCM130_provenance.