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    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4573
    • SNVs : 3404
    • InDels : 1169
    • Last Update : 26/10/2017

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    Gene system                                                                   
    Gene symbol  (e.g. PRPF8)                           
    Gene region                                                                        
    Mutation type                                                                      
    Effect                                                         
    Locus  (e.g. chr17:1554203-1554203)  



    Disease Search Options to filter  
    Disease name          (e.g. Alagille syndrome)           



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