Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP438159.RA4k08XyrHp-vA2yMZj6JDwkLwhpWmOSDZzaJ9_iMX3go130_assertion> ?p ?o ?g. }
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- NP438159.RA4k08XyrHp-vA2yMZj6JDwkLwhpWmOSDZzaJ9_iMX3go130_assertion type Assertion NP438159.RA4k08XyrHp-vA2yMZj6JDwkLwhpWmOSDZzaJ9_iMX3go130_head.
- NP438159.RA4k08XyrHp-vA2yMZj6JDwkLwhpWmOSDZzaJ9_iMX3go130_assertion description "[In humans, mutations in TMEM67 (also known as MKS3) cause both MKS and JBTS, with TMEM67 encoding the orphan receptor meckelin (TMEM67) that localizes to the ciliary transition zone.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP438159.RA4k08XyrHp-vA2yMZj6JDwkLwhpWmOSDZzaJ9_iMX3go130_provenance.
- NP438159.RA4k08XyrHp-vA2yMZj6JDwkLwhpWmOSDZzaJ9_iMX3go130_assertion evidence source_evidence_literature NP438159.RA4k08XyrHp-vA2yMZj6JDwkLwhpWmOSDZzaJ9_iMX3go130_provenance.
- NP438159.RA4k08XyrHp-vA2yMZj6JDwkLwhpWmOSDZzaJ9_iMX3go130_assertion SIO_000772 23283079 NP438159.RA4k08XyrHp-vA2yMZj6JDwkLwhpWmOSDZzaJ9_iMX3go130_provenance.
- NP438159.RA4k08XyrHp-vA2yMZj6JDwkLwhpWmOSDZzaJ9_iMX3go130_assertion wasDerivedFrom befree-20140225 NP438159.RA4k08XyrHp-vA2yMZj6JDwkLwhpWmOSDZzaJ9_iMX3go130_provenance.
- NP438159.RA4k08XyrHp-vA2yMZj6JDwkLwhpWmOSDZzaJ9_iMX3go130_assertion wasGeneratedBy ECO_0000203 NP438159.RA4k08XyrHp-vA2yMZj6JDwkLwhpWmOSDZzaJ9_iMX3go130_provenance.