{
    "title": "Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations.",
    "journal": "Ann. Neurol.",
    "date": "1999",
    "authors": "Vergouwe MN, Tijssen MA, Peters AC, Wielaard R, Frants RR",
    "reference": {
        "type": "PubMed",
        "id": "10514101",
        "url": "https://pubmed.ncbi.nlm.nih.gov/10514101"
    },
    "referenced_proteins": [
        "P23415-1"
    ],
    "referenced_glycans": [],
    "species": [
        {
            "name": "Homo sapiens",
            "taxid": 9606,
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "P23415",
                    "url": "https://www.uniprot.org/uniprot/P23415"
                }
            ],
            "common_name": "Human"
        }
    ],
    "record_id": "pubmed.10514101",
    "abstract": "",
    "glycosylation": [],
    "mutagenesis": [],
    "snv": [],
    "phosphorylation": [],
    "glycation": []
}