US PCT/US2024/032942 2024-06-07 30610/58818 US 63/471,634 2023-06-07 BIOMARIN PHARMACEUTICAL INC. High Throughput Screen for Genetic Variants Associated with Short Stature EDETECCIÓN DE ALTO RENDIMIENTO DE VARIANTES GENÉRICAS ASOCIADAS CON LA BAJA ESTATURA 61 39 AA PAT source 1..39 mol_type protein organism synthetic construct Constructo Sintético PGQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 38 AA PAT source 1..38 mol_type protein organism synthetic construct Constructo Sintético GQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 54 AA PAT source 1..54 mol_type protein organism synthetic construct Constructo Sintético GDLRVDTKSRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 54 AA PAT source 1..54 mol_type protein organism synthetic construct Constructo Sintético PDLRVDTKSRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 54 AA PAT source 1..54 mol_type protein organism synthetic construct Constructo Sintético MDLRVDTKSRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 53 AA PAT source 1..53 mol_type protein organism synthetic construct Constructo Sintético DLRVDTKSRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSNSGLGC 52 AA PAT source 1..52 mol_type protein organism synthetic construct Constructo Sintético LRVDTKSRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 51 AA PAT source 1..51 mol_type protein organism synthetic construct Constructo Sintético RVDTKSRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 50 AA PAT source 1..50 mol_type protein organism synthetic construct Constructo Sintético VDTKSRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 49 AA PAT source 1..49 mol_type protein organism synthetic construct Constructo Sintético DTKSRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 48 AA PAT source 1..48 mol_type protein organism synthetic construct Constructo Sintético TKSRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 47 AA PAT source 1..47 mol_type protein organism synthetic construct Constructo Sintético KSRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 46 AA PAT source 1..46 mol_type protein organism synthetic construct Constructo Sintético SRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 45 AA PAT source 1..45 mol_type protein organism synthetic construct Constructo Sintético RAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 44 AA PAT source 1..44 mol_type protein organism synthetic construct Constructo Sintético AAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 43 AA PAT source 1..43 mol_type protein organism synthetic construct Constructo Sintético AWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 42 AA PAT source 1..42 mol_type protein organism synthetic construct Constructo Sintético WARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 41 AA PAT source 1..41 mol_type protein organism synthetic construct Constructo Sintético ARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 40 AA PAT source 1..40 mol_type protein organism synthetic construct Constructo Sintético RLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 39 AA PAT source 1..39 mol_type protein organism synthetic construct Constructo Sintético LLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 38 AA PAT source 1..38 mol_type protein organism synthetic construct Constructo Sintético LQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 37 AA PAT source 1..37 mol_type protein organism synthetic construct Constructo Sintético QEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 36 AA PAT source 1..36 mol_type protein organism synthetic construct Constructo Sintético EHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 35 AA PAT source 1..35 mol_type protein organism synthetic construct Constructo Sintético HPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 34 AA PAT source 1..34 mol_type protein organism synthetic construct Constructo Sintético PNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 33 AA PAT source 1..33 mol_type protein organism synthetic construct Constructo Sintético NARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 32 AA PAT source 1..32 mol_type protein organism synthetic construct Constructo Sintético ARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 31 AA PAT source 1..31 mol_type protein organism synthetic construct Constructo Sintético RKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 30 AA PAT source 1..30 mol_type protein organism synthetic construct Constructo Sintético KYKGANKKGLSKGCFGLKLDRIGSMSGLGC 29 AA PAT source 1..29 mol_type protein organism synthetic construct Constructo Sintético YKGANKKGLSKGCFGLKLDRIGSMSGLGC 28 AA PAT source 1..28 mol_type protein organism synthetic construct Constructo Sintético KGANKKGLSKGCFGLKLDRIGSMSGLGC 27 AA PAT source 1..27 mol_type protein organism synthetic construct Constructo Sintético GANKKGLSKGCFGLKLDRIGSMSGLGC 26 AA PAT source 1..26 mol_type protein organism synthetic construct Constructo Sintético ANKKGLSKGCFGLKLDRIGSMSGLGC 25 AA PAT source 1..25 mol_type protein organism synthetic construct Constructo Sintético NKKGLSKGCFGLKLDRIGSMSGLGC 24 AA PAT source 1..24 mol_type protein organism synthetic construct Constructo Sintético KKGLSKGCFGLKLDRIGSMSGLGC 23 AA PAT source 1..23 mol_type protein organism synthetic construct Constructo Sintético KGLSKGCFGLKLDRIGSMSGLGC 21 AA PAT source 1..21 mol_type protein organism synthetic construct Constructo Sintético LSKGCFGLKLDRIGSMSGLGC 20 AA PAT source 1..20 mol_type protein organism synthetic construct Constructo Sintético SKGCFGLKLDRIGSMSGLGC 19 AA PAT source 1..19 mol_type protein organism synthetic construct Constructo Sintético KGCFGLKLDRIGSMSGLGC 18 AA PAT source 1..18 mol_type protein organism synthetic construct Constructo Sintético GCFGLKLDRIGSMSGLGC 37 AA PAT source 1..37 mol_type protein organism synthetic construct Constructo Sintético QEHPNARKYKGANKKGLSKGCFGLKLDRIGSNSGLGC 38 AA PAT source 1..38 mol_type protein organism synthetic construct Constructo Sintético PQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 38 AA PAT source 1..38 mol_type protein organism synthetic construct Constructo Sintético MQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 38 AA PAT source 1..38 mol_type protein organism synthetic construct Constructo Sintético GQEHPNARKYKGANKKGLSKGCFGLKLDRIGSNSGLGC 39 AA PAT source 1..39 mol_type protein organism synthetic construct Constructo Sintético MGQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 39 AA PAT source 1..39 mol_type protein organism synthetic construct Constructo Sintético PGQEHPQARRYRGAQRRGLSRGCFGLKLDRIGSMSGLGC 39 AA PAT source 1..39 mol_type protein organism synthetic construct Constructo Sintético PGQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC 39 AA PAT source 1..39 mol_type protein organism synthetic construct Constructo Sintético PGQEHPNARRYRGANRRGLSRGCFGLKLDRIGSMSGLGC 39 AA PAT source 1..39 mol_type protein organism synthetic construct Constructo Sintético PGQEHPQARKYKGAQKKGLSKGCFGLKLDRIGSMSGLGC 38 AA PAT source 1..38 mol_type protein organism synthetic construct Constructo Sintético GQEHPNARKYKGANPKGLSKGCFGLKLDRIGSMSGLGC 38 AA PAT source 1..38 mol_type protein organism synthetic construct Constructo Sintético GQEHPNARKYKGANQKGLSKGCFGLKLDRIGSMSGLGC 38 AA PAT source 1..38 mol_type protein organism synthetic construct Constructo Sintético GQEHPNARKYKGANQQGLSKGCFGLKLDRIGSMSGLGC 38 AA PAT source 1..38 mol_type protein organism synthetic construct Constructo Sintético GQEHPNARKYKGANKPGLSKGCFGLKLDRIGSMSGLGC 24 DNA PAT source 1..24 mol_type other DNA organism synthetic construct Constructo Sintético tgtctggatctcaaatccctcgga 24 DNA PAT source 1..24 mol_type other DNA organism synthetic construct Constructo Sintético aggaaagatgcgaacatactggct 49 DNA PAT source 1..49 mol_type other DNA organism synthetic construct Constructo Sintético aatgatacggcgaccaccgagatctacacgtcatcgaattcctgcagcc 75 DNA PAT source 1..75 mol_type other DNA organism synthetic construct Constructo Sintético caagcagaagacggcatacgagatgcacgacgagacgcagacgaatacgacagagctggctcttaggagagcgga 35 DNA PAT source 1..35 mol_type other DNA organism synthetic construct Constructo Sintético agctcagttagcctcccccatctctcggtttaaac 54 DNA PAT source 1..54 mol_type other DNA organism synthetic construct Constructo Sintético agcggccgcgttggtcaggcttggatttctataacttcgtatagcagtttaaac 20 DNA PAT source 1..20 mol_type other DNA organism synthetic construct Constructo Sintético gtttaaaccgagagatgggg 1050 AA PAT source 1..1050 mol_type protein organism synthetic construct Constructo Sintético MALPSLLLLVAALAGGVRPPGARNLTLAVVLPEHNLSYAWAWPRVGPAVALAVEALGRALPVDLRFVSSELEGACSEYLAPLSAVDLKLYHDPDLLLGPGCVYPAASVARFASHWRLPLLTAGAVASGFSAKNDHYRTLVRTGPSAPKLGEFVVTLHGHFNWTARAALLYLDARTDDRPHYFTIEGVFEALQGSNLSVQHQVYAREPGGPEQATHFIRANGRIVYICGPLEMLHEILLQAQRENLTNGDYVFFYLDVFGESLRAGPTRATGRPWQDNRTREQAQALREAFQTVLVITYREPPNPEYQEFQNRLLIRAREDFGVELGPSLMNLIAGCFYDGILLYAEVLNETIQEGGTREDGLRIVEKMQGRRYHGVTGLVVMDKNNDRETDFVLWAMGDLDSGDFQPAAHYSGAEKQIWWTGRPIPWVKGAPPSDNPPCAFDLDDPSCDKTPLSTLAIVALGTGITFIMFGVSSFLIFRPYRKLMLEKELASMLWRIRWEELQFGNSERYHKGAGSRLTLSLRGSSYGSLMTAHGKYQIFANTGHFKGNVVAIKHVNKKRIELTRQVLFELKHMRDVQFNHLTRFIGACIDPPNICIVTEYCPRGSLQDILENDSINLDWMFRYSLINDLVKGMAFLHNSIISSHGSLKSSNCVVDSRFVLKITDYGLASFRSTAEPDDSHALYAKKLWTAPELLSGNPLPTTGMQKADVYSFGIILQEIALRSGPFYLEGLDLSPKEIVQKVRNGQRPYFRPSIDRTQLNEELVLLMERCWAQDPAERPDFGQIKGFIRRFNKEGGTSILDNLLLRMEQYANNLEKLVEERTQAYLEEKRKAEALLYQILPHSVAEQLKRGETVQAEAFDSVTIYFSDIVGFTALSAESTPMQVVTLLNDLYTCFDAIIDNFDVYKVETIGDAYMVVSGLPGRNGQRHAPEIARMALALLDAVSSFRIRHRPHDQLRLRIGVHTGPVCAGVVGLKMPRYCLFGDTVNTASRMESNGQALKIHVSSTTKDALDELGCFQLELRGDVEMKGKGKMRTYWLLGERKGPPGLL