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- source_evidence_literature type ECO_0000212 NP1130039.RAU731BY-3jGzBI80rNexz_H0_itNrmjUr-2PheJ1US58130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1130039.RAU731BY-3jGzBI80rNexz_H0_itNrmjUr-2PheJ1US58130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1130039.RAU731BY-3jGzBI80rNexz_H0_itNrmjUr-2PheJ1US58130_provenance.
- NP1130039.RAU731BY-3jGzBI80rNexz_H0_itNrmjUr-2PheJ1US58130_assertion description "[Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1130039.RAU731BY-3jGzBI80rNexz_H0_itNrmjUr-2PheJ1US58130_provenance.
- NP1130039.RAU731BY-3jGzBI80rNexz_H0_itNrmjUr-2PheJ1US58130_assertion evidence source_evidence_literature NP1130039.RAU731BY-3jGzBI80rNexz_H0_itNrmjUr-2PheJ1US58130_provenance.
- NP1130039.RAU731BY-3jGzBI80rNexz_H0_itNrmjUr-2PheJ1US58130_assertion SIO_000772 24259184 NP1130039.RAU731BY-3jGzBI80rNexz_H0_itNrmjUr-2PheJ1US58130_provenance.
- NP1130039.RAU731BY-3jGzBI80rNexz_H0_itNrmjUr-2PheJ1US58130_assertion wasDerivedFrom befree-2016 NP1130039.RAU731BY-3jGzBI80rNexz_H0_itNrmjUr-2PheJ1US58130_provenance.
- NP1130039.RAU731BY-3jGzBI80rNexz_H0_itNrmjUr-2PheJ1US58130_assertion wasGeneratedBy ECO_0000203 NP1130039.RAU731BY-3jGzBI80rNexz_H0_itNrmjUr-2PheJ1US58130_provenance.
- befree-2016 importedOn "2016-02-19" NP1130039.RAU731BY-3jGzBI80rNexz_H0_itNrmjUr-2PheJ1US58130_provenance.