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    {
        "title": "Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes.",
        "journal": "Am. J. Med. Genet. A",
        "date": "2014",
        "authors": "Mignon-Ravix C\u00e9cile, Cacciagli Pierre, Choucair Nancy, Popovici Cornel, Missirian Chantal, Milh Mathieu, M\u00e9garban\u00e9 Andr\u00e9, Busa Tiffany, Julia Sophie, Girard Nadine, Badens Catherine, Sigaudy Sabine, Philip Nicole, Villard Laurent",
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        ],
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                "name": "Homo sapiens",
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                ],
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        ],
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        "section_stats": [
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    {
        "title": "Cullin3-KLHL15 ubiquitin ligase mediates CtIP protein turnover to fine-tune DNA-end resection.",
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        "date": "2016",
        "authors": "Ferretti LP, Himmels SF, Trenner A, Walker C, von Aesch C, Eggenschwiler A, Murina O, Enchev RI, Peter M, Freire R, Porro A, Sartori AA",
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                ],
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            {
                "start_pos": 386,
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                "sequence_mut": "C",
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                ],
                "uniprot_canonical_ac": "Q96M94-1"
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                "start_pos": 552,
                "end_pos": 552,
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                "sequence_mut": "A",
                "comment": "Decreased interaction with RBBP8 and increased DNA-end resection and homologous recombination frequency following DNA double-strand breaks compared to the wild-type protein. No significant change in subcellular location.",
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            {
                "start_pos": 276,
                "end_pos": 276,
                "sequence_org": "S",
                "sequence_mut": "A",
                "comment": "No effect on PIN1-binding. Impaired PIN1-binding, partially decreased CUL3/KLHL15-mediated proteasomal degradation, no effect on BRCA1-, MRE11-, nor on KLHL15-binding; when associated with A-315.",
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                "start_pos": 315,
                "end_pos": 315,
                "sequence_org": "T",
                "sequence_mut": "A",
                "comment": "Decreased PIN1-binding. Impaired PIN1-binding, partially decreased CUL3/KLHL15-mediated proteasomal degradation, no effect on BRCA1-, MRE11-, nor on KLHL15-binding; when associated with A-276.",
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                "sequence_org": "K",
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                "comment": "Impaired FZR1-binding and APC/C-mediated polyubiquitination. Increased stability. No effect on MRE11-binding, nor on CUL3/KLHL15-mediated proteasomal degradation. No effect on DNA-en resection activity.",
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