EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay

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  "schema:name": "EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay",
  "schema:datePublished": 2020,
  "borg:venue": "Clinical Genetics",
  "schema:identifier": "10.1111/cge.13842",
  "schema:url": "https://doi.org/10.1111/cge.13842",
  "borg:bibKey": "Umair2020",
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  "borg:authorRaw": [
    "Muhammad Umair",
    "Mariam Ballow",
    "Abdulaziz Asiri",
    "Yusra Alyafee",
    "Abeer Tuwaijri",
    "Kheloud M. Alhamoudi",
    "Taghrid Aloraini",
    "Marwa Abdelhakim",
    "Azza Thamer Althagafi",
    "Senay Kafkas",
    "Lamia Alsubaie",
    "Muhammad Talal Alrifai",
    "Robert Hoehndorf",
    "Ahmed Alfares",
    "Majid Alfadhel"
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    "EMC10 variant",
    "global developmental delay",
    "intellectual disability",
    "speech delay",
    "homozygous variant",
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  "borg:tagRationale": "This paper describes the identification of a specific genetic variant linked to a rare disease, which falls under rare disease diagnostic support and involves genomic analysis.",
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Machine-readable copy: data.jsonld. Full dataset: kg.jsonld.