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    {
        "title": "LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.",
        "journal": "American journal of human genetics",
        "date": "2010",
        "authors": "Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nurnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nurnberg P, Herz J, Temtamy SA, Wollnik B",
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                "start_pos": 137,
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                                "name": "Cenani-Lenz syndactyly syndrome",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014578",
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                                "name": "Myasthenic syndrome, congenital, 17",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0013679",
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    {
        "title": "LRP4 third beta-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.",
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        "date": "2014",
        "authors": "Ohkawara B, Cabrera-Serrano M, Nakata T, Milone M, Asai N, Ito K, Ito M, Masuda A, Ito Y, Engel AG, Ohno K",
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