Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1040153.RAwzINBAScAseAQVgGIxrfHd0-G93N43HoT2Y2eYZVXzM130_assertion> ?p ?o ?g. }
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- NP1040153.RAwzINBAScAseAQVgGIxrfHd0-G93N43HoT2Y2eYZVXzM130_assertion type Assertion NP1040153.RAwzINBAScAseAQVgGIxrfHd0-G93N43HoT2Y2eYZVXzM130_head.
- NP1040153.RAwzINBAScAseAQVgGIxrfHd0-G93N43HoT2Y2eYZVXzM130_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." NP1040153.RAwzINBAScAseAQVgGIxrfHd0-G93N43HoT2Y2eYZVXzM130_provenance.
- NP1040153.RAwzINBAScAseAQVgGIxrfHd0-G93N43HoT2Y2eYZVXzM130_assertion evidence source_evidence_literature NP1040153.RAwzINBAScAseAQVgGIxrfHd0-G93N43HoT2Y2eYZVXzM130_provenance.
- NP1040153.RAwzINBAScAseAQVgGIxrfHd0-G93N43HoT2Y2eYZVXzM130_assertion SIO_000772 23283079 NP1040153.RAwzINBAScAseAQVgGIxrfHd0-G93N43HoT2Y2eYZVXzM130_provenance.
- NP1040153.RAwzINBAScAseAQVgGIxrfHd0-G93N43HoT2Y2eYZVXzM130_assertion wasDerivedFrom befree-2016 NP1040153.RAwzINBAScAseAQVgGIxrfHd0-G93N43HoT2Y2eYZVXzM130_provenance.
- NP1040153.RAwzINBAScAseAQVgGIxrfHd0-G93N43HoT2Y2eYZVXzM130_assertion wasGeneratedBy ECO_0000203 NP1040153.RAwzINBAScAseAQVgGIxrfHd0-G93N43HoT2Y2eYZVXzM130_provenance.