Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP396962.RAhjOPUsI9BmwymG7hlnmAypTnAWBiMH2bIGhD2_LwkRQ130_assertion> ?p ?o ?g. }
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- NP396962.RAhjOPUsI9BmwymG7hlnmAypTnAWBiMH2bIGhD2_LwkRQ130_assertion type Assertion NP396962.RAhjOPUsI9BmwymG7hlnmAypTnAWBiMH2bIGhD2_LwkRQ130_head.
- NP396962.RAhjOPUsI9BmwymG7hlnmAypTnAWBiMH2bIGhD2_LwkRQ130_assertion description "[DNA samples from 97 patients with BD and 51 matched healthy controls were analysed for the mevalonate kinase (MVK), cold-induced autoinflammatory syndrome 1 (CIAS1) and proline/serine/threonine phosphatase-interacting protein 1 (PSTPIP1) genes, responsible for mevalonate kinase deficiency (MKD), cryopyrin associated periodic syndromes (CAPS) and pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP396962.RAhjOPUsI9BmwymG7hlnmAypTnAWBiMH2bIGhD2_LwkRQ130_provenance.
- NP396962.RAhjOPUsI9BmwymG7hlnmAypTnAWBiMH2bIGhD2_LwkRQ130_assertion evidence source_evidence_literature NP396962.RAhjOPUsI9BmwymG7hlnmAypTnAWBiMH2bIGhD2_LwkRQ130_provenance.
- NP396962.RAhjOPUsI9BmwymG7hlnmAypTnAWBiMH2bIGhD2_LwkRQ130_assertion SIO_000772 17213252 NP396962.RAhjOPUsI9BmwymG7hlnmAypTnAWBiMH2bIGhD2_LwkRQ130_provenance.
- NP396962.RAhjOPUsI9BmwymG7hlnmAypTnAWBiMH2bIGhD2_LwkRQ130_assertion wasDerivedFrom befree-20140225 NP396962.RAhjOPUsI9BmwymG7hlnmAypTnAWBiMH2bIGhD2_LwkRQ130_provenance.
- NP396962.RAhjOPUsI9BmwymG7hlnmAypTnAWBiMH2bIGhD2_LwkRQ130_assertion wasGeneratedBy ECO_0000203 NP396962.RAhjOPUsI9BmwymG7hlnmAypTnAWBiMH2bIGhD2_LwkRQ130_provenance.