{
    "PMID": "10612821",
    "TI": "Human gene mutation database-a biomedical information and research resource.",
    "JT": "Human mutation",
    "BTI": "",
    "DP": "2000",
    "AU": "Krawczak M, Ball E V, Fenton I, Stenson P D, Abeysinghe S, Thomas N, Cooper D N"
}