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                "type": "Contribution"
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            ],
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              "id": "0063",
              "label": "PP4",
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                        "comments": "PP4_met: This variant was reported in 1 Chinese patient with mild hyperphenylalaninemia (PMID: 30459323).\n\n30459323, Chen - This variant was reported in 1 Chinese patient with PAH deficiency. Phenylalanine plasma concentrations >120 μmol/L were reported for all subjects. Patients with BH4 cofactor deficiency were excluded, however, the paper did not mention urinary pterin analysis and DHPR activity as methods of exclusion.",
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    "id": "CG-PCER-VARINT:CA481332664/MONDO:0009861/006",
    "metadata": {
      "created": "2024-09-27T21:17:16.817Z",
      "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 21:17:16 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26333-7",
      "id": "LN:LA26333-7",
      "label": "Uncertain Significance"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "29c30051-bb9c-4220-902f-e83b24b5fdb3",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA481332664",
      "id": "CAR:CA481332664",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001354304.2:c.441T>C"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001354304.2:c.441T>C"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T05:16:37.195Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}