Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1216222.RAfaFEmNcEYwErTg3pi739x5_WI1YmQOsSxhEMOMHIp3w130_assertion> ?p ?o ?g. }
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- NP1216222.RAfaFEmNcEYwErTg3pi739x5_WI1YmQOsSxhEMOMHIp3w130_assertion type Assertion NP1216222.RAfaFEmNcEYwErTg3pi739x5_WI1YmQOsSxhEMOMHIp3w130_head.
- NP1216222.RAfaFEmNcEYwErTg3pi739x5_WI1YmQOsSxhEMOMHIp3w130_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." NP1216222.RAfaFEmNcEYwErTg3pi739x5_WI1YmQOsSxhEMOMHIp3w130_provenance.
- NP1216222.RAfaFEmNcEYwErTg3pi739x5_WI1YmQOsSxhEMOMHIp3w130_assertion evidence source_evidence_literature NP1216222.RAfaFEmNcEYwErTg3pi739x5_WI1YmQOsSxhEMOMHIp3w130_provenance.
- NP1216222.RAfaFEmNcEYwErTg3pi739x5_WI1YmQOsSxhEMOMHIp3w130_assertion SIO_000772 25182139 NP1216222.RAfaFEmNcEYwErTg3pi739x5_WI1YmQOsSxhEMOMHIp3w130_provenance.
- NP1216222.RAfaFEmNcEYwErTg3pi739x5_WI1YmQOsSxhEMOMHIp3w130_assertion wasDerivedFrom befree-2016 NP1216222.RAfaFEmNcEYwErTg3pi739x5_WI1YmQOsSxhEMOMHIp3w130_provenance.
- NP1216222.RAfaFEmNcEYwErTg3pi739x5_WI1YmQOsSxhEMOMHIp3w130_assertion wasGeneratedBy ECO_0000203 NP1216222.RAfaFEmNcEYwErTg3pi739x5_WI1YmQOsSxhEMOMHIp3w130_provenance.