Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1216223.RAiPfmm9JFcwQFs0xB7qQdNH-UWy6WozyXxs7MovX4PhM130_assertion> ?p ?o ?g. }
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- NP1216223.RAiPfmm9JFcwQFs0xB7qQdNH-UWy6WozyXxs7MovX4PhM130_assertion type Assertion NP1216223.RAiPfmm9JFcwQFs0xB7qQdNH-UWy6WozyXxs7MovX4PhM130_head.
- NP1216223.RAiPfmm9JFcwQFs0xB7qQdNH-UWy6WozyXxs7MovX4PhM130_assertion description "[Defects in this gene, encoding the phosphoribosyl pyrophosphate synthetase 1 (PRS-I) enzyme, determine either X-linked syndromic conditions associated with hearing impairment (eg, Arts syndrome and Charcot-Marie-Tooth neuropathy type X-5) or non-syndromic HL (DFNX1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1216223.RAiPfmm9JFcwQFs0xB7qQdNH-UWy6WozyXxs7MovX4PhM130_provenance.
- NP1216223.RAiPfmm9JFcwQFs0xB7qQdNH-UWy6WozyXxs7MovX4PhM130_assertion evidence source_evidence_literature NP1216223.RAiPfmm9JFcwQFs0xB7qQdNH-UWy6WozyXxs7MovX4PhM130_provenance.
- NP1216223.RAiPfmm9JFcwQFs0xB7qQdNH-UWy6WozyXxs7MovX4PhM130_assertion SIO_000772 25182139 NP1216223.RAiPfmm9JFcwQFs0xB7qQdNH-UWy6WozyXxs7MovX4PhM130_provenance.
- NP1216223.RAiPfmm9JFcwQFs0xB7qQdNH-UWy6WozyXxs7MovX4PhM130_assertion wasDerivedFrom befree-2016 NP1216223.RAiPfmm9JFcwQFs0xB7qQdNH-UWy6WozyXxs7MovX4PhM130_provenance.
- NP1216223.RAiPfmm9JFcwQFs0xB7qQdNH-UWy6WozyXxs7MovX4PhM130_assertion wasGeneratedBy ECO_0000203 NP1216223.RAiPfmm9JFcwQFs0xB7qQdNH-UWy6WozyXxs7MovX4PhM130_provenance.