Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP5277.RA5oxsxDsb3WPYD__jXFguWfk8h58jriY43TndbDOMLck130_assertion> ?p ?o ?g. }
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- NP5277.RA5oxsxDsb3WPYD__jXFguWfk8h58jriY43TndbDOMLck130_assertion type Assertion NP5277.RA5oxsxDsb3WPYD__jXFguWfk8h58jriY43TndbDOMLck130_head.
- NP5277.RA5oxsxDsb3WPYD__jXFguWfk8h58jriY43TndbDOMLck130_assertion description "[Studying consanguineous families with Ghosal hematodiaphyseal dysplasia syndrome (GHDD), a disorder of increased bone density, we identified mutations in TBXAS1, which encodes thromboxane synthase (TXAS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5277.RA5oxsxDsb3WPYD__jXFguWfk8h58jriY43TndbDOMLck130_provenance.
- NP5277.RA5oxsxDsb3WPYD__jXFguWfk8h58jriY43TndbDOMLck130_assertion evidence source_evidence_curated NP5277.RA5oxsxDsb3WPYD__jXFguWfk8h58jriY43TndbDOMLck130_provenance.
- NP5277.RA5oxsxDsb3WPYD__jXFguWfk8h58jriY43TndbDOMLck130_assertion SIO_000772 18264100 NP5277.RA5oxsxDsb3WPYD__jXFguWfk8h58jriY43TndbDOMLck130_provenance.
- NP5277.RA5oxsxDsb3WPYD__jXFguWfk8h58jriY43TndbDOMLck130_assertion wasDerivedFrom uniprot-2016 NP5277.RA5oxsxDsb3WPYD__jXFguWfk8h58jriY43TndbDOMLck130_provenance.
- NP5277.RA5oxsxDsb3WPYD__jXFguWfk8h58jriY43TndbDOMLck130_assertion wasGeneratedBy ECO_0000218 NP5277.RA5oxsxDsb3WPYD__jXFguWfk8h58jriY43TndbDOMLck130_provenance.