{
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  "affiliations": [
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      "name": "Duygu Çetinkaya"
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      "name": "Abdulsamet Güneş"
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  "bibtex": "https://research.draconitic.com/paper/22ngtn0qy5wm7.bib",
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  "doi": "10.1136/bmjpo-2026-epa-unepsa.270",
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  "published": "2026-10-01",
  "publisher": "BMJ Publishing Group",
  "ris": "https://research.draconitic.com/paper/22ngtn0qy5wm7.ris",
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  "subjects": [
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  "title": "PP–019 Expanding the b3galt6-related al-gazali/SEMDJL1 spectrum: progressive obstructive hydrocephalus, corpus callosum dysgenesis, and a novel homozygous C.638C>G variant in early infancy",
  "title_text": "PP–019 Expanding the b3galt6-related al-gazali/SEMDJL1 spectrum: progressive obstructive hydrocephalus, corpus callosum dysgenesis, and a novel homozygous C.638C>G variant in early infancy",
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  "url": "https://research.draconitic.com/paper/22ngtn0qy5wm7",
  "venue": "BMJ Paediatrics Open",
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}