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