{
  "abstract": null,
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  "affiliations": [
    "Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Riley Hospital for Children, , Indianapolis, IN 46202, USA;",
    "Mirum Pharmaceuticals, Inc., Foster City, CA 94404, USA; (T.P.); (S.M.V.)",
    "Department of Gastroenterology, , St. Petersburg, FL 33701, USA;",
    "Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children’s Mercy—Kansas City, Kansas City, MO 64108, USA; (V.S.); (L.K.)",
    "Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, , St. Louis, MO 63110, USA;",
    "Division of Pediatric Gastroenterology, Hepatology and Nutrition, , Omaha, NE 68198, USA;",
    "Department of Pediatrics, Cumming School of Medicine, , Calgary, AB T2N 4N1, Canada;",
    "Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, The School of Medicine, Baltimore, MD 21205, USA;"
  ],
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      "name": "Lakshmi Kunam"
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      "name": "Ruben E. Quiros-Tejeira"
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      "name": "Wikrom Karnsakul"
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  "pdf_url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13704217/pdf/?tool=EBI",
  "pmcid": "PMC13704217",
  "pmid": null,
  "published": "2026-10-01",
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  "ris": "https://research.draconitic.com/paper/7fwm46tk1k7q9.ris",
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  "subjects": [
    {
      "field": "biology",
      "origin": "journal-openalex:1311|Genomics and Rare Diseases",
      "subfield": "genetics-genomics"
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  ],
  "title": "NOTCH2 VUS Interpretation in Pediatric Cholestasis: A 365-Variant Landscape and Genotype–Phenotype Analysis of 7 Cases",
  "title_text": "NOTCH2 VUS Interpretation in Pediatric Cholestasis: A 365-Variant Landscape and Genotype–Phenotype Analysis of 7 Cases",
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  "updated_at": "2026-10-30T12:21:47Z",
  "url": "https://research.draconitic.com/paper/7fwm46tk1k7q9",
  "venue": "Genes",
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