Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP724232.RAVmUxisqVGZcQA9eRYwaaSfMi9wZi1EfgyPpZ62HoR74130_assertion> ?p ?o ?g. }
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- NP724232.RAVmUxisqVGZcQA9eRYwaaSfMi9wZi1EfgyPpZ62HoR74130_assertion type Assertion NP724232.RAVmUxisqVGZcQA9eRYwaaSfMi9wZi1EfgyPpZ62HoR74130_head.
- NP724232.RAVmUxisqVGZcQA9eRYwaaSfMi9wZi1EfgyPpZ62HoR74130_assertion description "[Gain of function mutations in PRPS1 cause a superactivity of the PRS-I protein whereas the loss-of-function mutations result in X-linked nonsyndromic sensorineural deafness type 2 (DFN2), or in syndromic deafness including Arts syndrome and X-linked Charcot-Marie-Tooth disease-5 (CMTX5).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP724232.RAVmUxisqVGZcQA9eRYwaaSfMi9wZi1EfgyPpZ62HoR74130_provenance.
- NP724232.RAVmUxisqVGZcQA9eRYwaaSfMi9wZi1EfgyPpZ62HoR74130_assertion evidence source_evidence_literature NP724232.RAVmUxisqVGZcQA9eRYwaaSfMi9wZi1EfgyPpZ62HoR74130_provenance.
- NP724232.RAVmUxisqVGZcQA9eRYwaaSfMi9wZi1EfgyPpZ62HoR74130_assertion SIO_000772 23190330 NP724232.RAVmUxisqVGZcQA9eRYwaaSfMi9wZi1EfgyPpZ62HoR74130_provenance.
- NP724232.RAVmUxisqVGZcQA9eRYwaaSfMi9wZi1EfgyPpZ62HoR74130_assertion wasDerivedFrom befree-20140225 NP724232.RAVmUxisqVGZcQA9eRYwaaSfMi9wZi1EfgyPpZ62HoR74130_provenance.
- NP724232.RAVmUxisqVGZcQA9eRYwaaSfMi9wZi1EfgyPpZ62HoR74130_assertion wasGeneratedBy ECO_0000203 NP724232.RAVmUxisqVGZcQA9eRYwaaSfMi9wZi1EfgyPpZ62HoR74130_provenance.