Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP515926.RAkoxhDa7oBToleZSo-Un7RkaQXvoxNu8BECuJOcGAx5k130_assertion> ?p ?o ?g. }
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- NP515926.RAkoxhDa7oBToleZSo-Un7RkaQXvoxNu8BECuJOcGAx5k130_assertion type Assertion NP515926.RAkoxhDa7oBToleZSo-Un7RkaQXvoxNu8BECuJOcGAx5k130_head.
- NP515926.RAkoxhDa7oBToleZSo-Un7RkaQXvoxNu8BECuJOcGAx5k130_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." NP515926.RAkoxhDa7oBToleZSo-Un7RkaQXvoxNu8BECuJOcGAx5k130_provenance.
- NP515926.RAkoxhDa7oBToleZSo-Un7RkaQXvoxNu8BECuJOcGAx5k130_assertion evidence source_evidence_literature NP515926.RAkoxhDa7oBToleZSo-Un7RkaQXvoxNu8BECuJOcGAx5k130_provenance.
- NP515926.RAkoxhDa7oBToleZSo-Un7RkaQXvoxNu8BECuJOcGAx5k130_assertion SIO_000772 23190330 NP515926.RAkoxhDa7oBToleZSo-Un7RkaQXvoxNu8BECuJOcGAx5k130_provenance.
- NP515926.RAkoxhDa7oBToleZSo-Un7RkaQXvoxNu8BECuJOcGAx5k130_assertion wasDerivedFrom befree-20140225 NP515926.RAkoxhDa7oBToleZSo-Un7RkaQXvoxNu8BECuJOcGAx5k130_provenance.
- NP515926.RAkoxhDa7oBToleZSo-Un7RkaQXvoxNu8BECuJOcGAx5k130_assertion wasGeneratedBy ECO_0000203 NP515926.RAkoxhDa7oBToleZSo-Un7RkaQXvoxNu8BECuJOcGAx5k130_provenance.