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- source_evidence_literature type ECO_0000212 NP707512.RAseyOZNYyvaJZiaEh1Z-kmnOldBmktmEmVnkh-ff0YN4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP707512.RAseyOZNYyvaJZiaEh1Z-kmnOldBmktmEmVnkh-ff0YN4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP707512.RAseyOZNYyvaJZiaEh1Z-kmnOldBmktmEmVnkh-ff0YN4130_provenance.
- NP707512.RAseyOZNYyvaJZiaEh1Z-kmnOldBmktmEmVnkh-ff0YN4130_assertion description "[Correlation of sequencing and biochemical data reveals that using plasma guanidinoacetate (GAA) as a biomarker has 100% specificity for both AGAT and GAMT deficiencies, but AGAT deficiency has decreased sensitivity in this assay.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP707512.RAseyOZNYyvaJZiaEh1Z-kmnOldBmktmEmVnkh-ff0YN4130_provenance.
- NP707512.RAseyOZNYyvaJZiaEh1Z-kmnOldBmktmEmVnkh-ff0YN4130_assertion evidence source_evidence_literature NP707512.RAseyOZNYyvaJZiaEh1Z-kmnOldBmktmEmVnkh-ff0YN4130_provenance.
- NP707512.RAseyOZNYyvaJZiaEh1Z-kmnOldBmktmEmVnkh-ff0YN4130_assertion SIO_000772 23660394 NP707512.RAseyOZNYyvaJZiaEh1Z-kmnOldBmktmEmVnkh-ff0YN4130_provenance.
- NP707512.RAseyOZNYyvaJZiaEh1Z-kmnOldBmktmEmVnkh-ff0YN4130_assertion wasDerivedFrom befree-20140225 NP707512.RAseyOZNYyvaJZiaEh1Z-kmnOldBmktmEmVnkh-ff0YN4130_provenance.
- NP707512.RAseyOZNYyvaJZiaEh1Z-kmnOldBmktmEmVnkh-ff0YN4130_assertion wasGeneratedBy ECO_0000203 NP707512.RAseyOZNYyvaJZiaEh1Z-kmnOldBmktmEmVnkh-ff0YN4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP707512.RAseyOZNYyvaJZiaEh1Z-kmnOldBmktmEmVnkh-ff0YN4130_provenance.