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- source_evidence_literature type ECO_0000212 NP1246539.RA2DZrO-pDnBM4AxSx33OMf-Oot5550myxd7nqa698W2A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1246539.RA2DZrO-pDnBM4AxSx33OMf-Oot5550myxd7nqa698W2A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1246539.RA2DZrO-pDnBM4AxSx33OMf-Oot5550myxd7nqa698W2A130_provenance.
- NP1246539.RA2DZrO-pDnBM4AxSx33OMf-Oot5550myxd7nqa698W2A130_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." NP1246539.RA2DZrO-pDnBM4AxSx33OMf-Oot5550myxd7nqa698W2A130_provenance.
- NP1246539.RA2DZrO-pDnBM4AxSx33OMf-Oot5550myxd7nqa698W2A130_assertion evidence source_evidence_literature NP1246539.RA2DZrO-pDnBM4AxSx33OMf-Oot5550myxd7nqa698W2A130_provenance.
- NP1246539.RA2DZrO-pDnBM4AxSx33OMf-Oot5550myxd7nqa698W2A130_assertion SIO_000772 25491489 NP1246539.RA2DZrO-pDnBM4AxSx33OMf-Oot5550myxd7nqa698W2A130_provenance.
- NP1246539.RA2DZrO-pDnBM4AxSx33OMf-Oot5550myxd7nqa698W2A130_assertion wasDerivedFrom befree-2016 NP1246539.RA2DZrO-pDnBM4AxSx33OMf-Oot5550myxd7nqa698W2A130_provenance.
- NP1246539.RA2DZrO-pDnBM4AxSx33OMf-Oot5550myxd7nqa698W2A130_assertion wasGeneratedBy ECO_0000203 NP1246539.RA2DZrO-pDnBM4AxSx33OMf-Oot5550myxd7nqa698W2A130_provenance.
- befree-2016 importedOn "2016-02-19" NP1246539.RA2DZrO-pDnBM4AxSx33OMf-Oot5550myxd7nqa698W2A130_provenance.