Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP602472.RAjVA9rd7Yigzok6wK2xGyUs3fzA9qzmp34zp8gkwVwKQ130_assertion> ?p ?o ?g. }
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- NP602472.RAjVA9rd7Yigzok6wK2xGyUs3fzA9qzmp34zp8gkwVwKQ130_assertion type Assertion NP602472.RAjVA9rd7Yigzok6wK2xGyUs3fzA9qzmp34zp8gkwVwKQ130_head.
- NP602472.RAjVA9rd7Yigzok6wK2xGyUs3fzA9qzmp34zp8gkwVwKQ130_assertion wasGeneratedBy ECO_0000203 NP602472.RAjVA9rd7Yigzok6wK2xGyUs3fzA9qzmp34zp8gkwVwKQ130_provenance.
- NP602472.RAjVA9rd7Yigzok6wK2xGyUs3fzA9qzmp34zp8gkwVwKQ130_assertion wasDerivedFrom befree-20140225 NP602472.RAjVA9rd7Yigzok6wK2xGyUs3fzA9qzmp34zp8gkwVwKQ130_provenance.
- NP602472.RAjVA9rd7Yigzok6wK2xGyUs3fzA9qzmp34zp8gkwVwKQ130_assertion SIO_000772 23456818 NP602472.RAjVA9rd7Yigzok6wK2xGyUs3fzA9qzmp34zp8gkwVwKQ130_provenance.
- NP602472.RAjVA9rd7Yigzok6wK2xGyUs3fzA9qzmp34zp8gkwVwKQ130_assertion evidence source_evidence_literature NP602472.RAjVA9rd7Yigzok6wK2xGyUs3fzA9qzmp34zp8gkwVwKQ130_provenance.
- NP602472.RAjVA9rd7Yigzok6wK2xGyUs3fzA9qzmp34zp8gkwVwKQ130_assertion description "[Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP602472.RAjVA9rd7Yigzok6wK2xGyUs3fzA9qzmp34zp8gkwVwKQ130_provenance.