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- source_evidence_literature type ECO_0000212 NP1031981.RA-ptacC5z4lERLTg3iN1OXgguYGjpfMV0XYJOKntHfxQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1031981.RA-ptacC5z4lERLTg3iN1OXgguYGjpfMV0XYJOKntHfxQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1031981.RA-ptacC5z4lERLTg3iN1OXgguYGjpfMV0XYJOKntHfxQ130_provenance.
- NP1031981.RA-ptacC5z4lERLTg3iN1OXgguYGjpfMV0XYJOKntHfxQ130_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." NP1031981.RA-ptacC5z4lERLTg3iN1OXgguYGjpfMV0XYJOKntHfxQ130_provenance.
- NP1031981.RA-ptacC5z4lERLTg3iN1OXgguYGjpfMV0XYJOKntHfxQ130_assertion evidence source_evidence_literature NP1031981.RA-ptacC5z4lERLTg3iN1OXgguYGjpfMV0XYJOKntHfxQ130_provenance.
- NP1031981.RA-ptacC5z4lERLTg3iN1OXgguYGjpfMV0XYJOKntHfxQ130_assertion SIO_000772 23190330 NP1031981.RA-ptacC5z4lERLTg3iN1OXgguYGjpfMV0XYJOKntHfxQ130_provenance.
- NP1031981.RA-ptacC5z4lERLTg3iN1OXgguYGjpfMV0XYJOKntHfxQ130_assertion wasDerivedFrom befree-2016 NP1031981.RA-ptacC5z4lERLTg3iN1OXgguYGjpfMV0XYJOKntHfxQ130_provenance.
- NP1031981.RA-ptacC5z4lERLTg3iN1OXgguYGjpfMV0XYJOKntHfxQ130_assertion wasGeneratedBy ECO_0000203 NP1031981.RA-ptacC5z4lERLTg3iN1OXgguYGjpfMV0XYJOKntHfxQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP1031981.RA-ptacC5z4lERLTg3iN1OXgguYGjpfMV0XYJOKntHfxQ130_provenance.