Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1246544.RAPKNXcTKePxl4VqiheXc5DDhCTOQMzRQ6XHXYCdxpfLI130_assertion> ?p ?o ?g. }
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- NP1246544.RAPKNXcTKePxl4VqiheXc5DDhCTOQMzRQ6XHXYCdxpfLI130_assertion type Assertion NP1246544.RAPKNXcTKePxl4VqiheXc5DDhCTOQMzRQ6XHXYCdxpfLI130_head.
- NP1246544.RAPKNXcTKePxl4VqiheXc5DDhCTOQMzRQ6XHXYCdxpfLI130_assertion description "[Phosphoribosyl pyrophosphate synthetase (PRS) I deficiency is a rare medical condition caused by missense mutations in PRPS1 that lead to three different phenotypes: Arts Syndrome (MIM 301835), X-linked Charcot-Marie-Tooth (CMTX5, MIM 311070) or X-linked non-syndromic sensorineural deafness (DFN2, MIM 304500).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1246544.RAPKNXcTKePxl4VqiheXc5DDhCTOQMzRQ6XHXYCdxpfLI130_provenance.
- NP1246544.RAPKNXcTKePxl4VqiheXc5DDhCTOQMzRQ6XHXYCdxpfLI130_assertion evidence source_evidence_literature NP1246544.RAPKNXcTKePxl4VqiheXc5DDhCTOQMzRQ6XHXYCdxpfLI130_provenance.
- NP1246544.RAPKNXcTKePxl4VqiheXc5DDhCTOQMzRQ6XHXYCdxpfLI130_assertion SIO_000772 25491489 NP1246544.RAPKNXcTKePxl4VqiheXc5DDhCTOQMzRQ6XHXYCdxpfLI130_provenance.
- NP1246544.RAPKNXcTKePxl4VqiheXc5DDhCTOQMzRQ6XHXYCdxpfLI130_assertion wasDerivedFrom befree-2016 NP1246544.RAPKNXcTKePxl4VqiheXc5DDhCTOQMzRQ6XHXYCdxpfLI130_provenance.
- NP1246544.RAPKNXcTKePxl4VqiheXc5DDhCTOQMzRQ6XHXYCdxpfLI130_assertion wasGeneratedBy ECO_0000203 NP1246544.RAPKNXcTKePxl4VqiheXc5DDhCTOQMzRQ6XHXYCdxpfLI130_provenance.