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All patients were presenting with blood phenylalanine levels persistently above 150 umol/l, and diagnosis of PAH deficiency was made when other potential causes of hyperphenylalaninemia had been ruled out. The criteria for inclusion were: normal serum tyrosine, normal urinary excresion of biopterin and neopterin, and no indication of acquired hyperphenylalaninemia.", "contributionDate": { "date": "2019/4/6", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA229624/MONDO:0009861/006/ci/EV000000004", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/8268925", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA229624/MONDO:0009861/006/0/1831/1833", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA229624/MONDO:0009861/006/1/1832", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA229624/MONDO:0009861/006/0/1831", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA229624/MONDO:0009861/006", "metadata": { "created": "2024-09-27T19:40:13.604Z", "note": "DISCLAIMER: While the data/content in this document is approved by ClinGen expert panel(s), the SEPIO schema presented here is an initial prototype and has not been reviewed nor finalized by the ClinGen Data Exchange Modeling Team. We expect it to differ significantly from the final schema.", "producedAtUTC": "Fri, 27 Sep 2024 19:40:13 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA6668-3", "id": "LN:LA6668-3", "label": "Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "c75a3cc6-1a5e-4837-b431-6e2b2a14c0b1", "variant": { "@id": "https://reg.genome.network/allele/CA229624", "id": "CAR:CA229624", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000277.2:c.561G>A" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000277.2(PAH):c.561G>A (p.Trp187Ter)" } ], "type": "CAR" } } ], "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-04-04T06:04:47.218Z" } }, "status": { "code": 200, "name": "OK" } }