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- source_evidence_literature type ECO_0000212 NP1363946.RA1fotc-jBMqhY6MjIUAojBKv9QfXrOkC-kx8JvhUOMo0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1363946.RA1fotc-jBMqhY6MjIUAojBKv9QfXrOkC-kx8JvhUOMo0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1363946.RA1fotc-jBMqhY6MjIUAojBKv9QfXrOkC-kx8JvhUOMo0130_provenance.
- NP1363946.RA1fotc-jBMqhY6MjIUAojBKv9QfXrOkC-kx8JvhUOMo0130_assertion description "[In a study of G6PD deficient patients who presented with clinical favism in Spain, we have found a new polymorphic variant that we have called G6PD Malaga, whose only abnormality is a 542 A-->T (181 Asp-->Val) mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1363946.RA1fotc-jBMqhY6MjIUAojBKv9QfXrOkC-kx8JvhUOMo0130_provenance.
- NP1363946.RA1fotc-jBMqhY6MjIUAojBKv9QfXrOkC-kx8JvhUOMo0130_assertion evidence source_evidence_literature NP1363946.RA1fotc-jBMqhY6MjIUAojBKv9QfXrOkC-kx8JvhUOMo0130_provenance.
- NP1363946.RA1fotc-jBMqhY6MjIUAojBKv9QfXrOkC-kx8JvhUOMo0130_assertion SIO_000772 8956035 NP1363946.RA1fotc-jBMqhY6MjIUAojBKv9QfXrOkC-kx8JvhUOMo0130_provenance.
- NP1363946.RA1fotc-jBMqhY6MjIUAojBKv9QfXrOkC-kx8JvhUOMo0130_assertion wasDerivedFrom befree-2016 NP1363946.RA1fotc-jBMqhY6MjIUAojBKv9QfXrOkC-kx8JvhUOMo0130_provenance.
- NP1363946.RA1fotc-jBMqhY6MjIUAojBKv9QfXrOkC-kx8JvhUOMo0130_assertion wasGeneratedBy ECO_0000203 NP1363946.RA1fotc-jBMqhY6MjIUAojBKv9QfXrOkC-kx8JvhUOMo0130_provenance.
- befree-2016 importedOn "2016-02-19" NP1363946.RA1fotc-jBMqhY6MjIUAojBKv9QfXrOkC-kx8JvhUOMo0130_provenance.