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    {
        "title": "Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.",
        "journal": "Blood",
        "date": "2002",
        "authors": "Notarangelo LD, Mazza C, Giliani S, D'Aria C, Gandellini F, Ravelli C, Locatelli MG, Nelson DL, Ochs HD, Notarangelo LD",
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                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I481",
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                                "id": "MONDO:0008555",
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                            },
                            {
                                "id": "MONDO:0008555",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0008555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008555",
                                "name": "thrombocytopenia type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008555",
                                "name": "THC2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008555",
                                "name": "thrombocytopenia autosomal dominant 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010120",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010120",
                                "name": "thrombocytopenia 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010120",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010120",
                                "name": "THC3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010120",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010120",
                                "name": "thrombocytopenia 3",
                                "description": ""
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                            {
                                "id": "MONDO:0010308",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010308",
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                                "description": "An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present."
                            },
                            {
                                "id": "MONDO:0010308",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010308",
                                "name": "X-linked thrombocytopenia, with or without dyserythropoietic Anaemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010308",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010308",
                                "name": "X-linked thrombocytopenia, with or without dyserythropoietic Anemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010308",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010308",
                                "name": "thrombocytopenia, X-linked, with or without dyserythropoietic anemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010308",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010308",
                                "name": "thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessive",
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                            {
                                "id": "MONDO:0010308",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010743",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010743",
                                "name": "thrombocytopenia 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010743",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010743",
                                "name": "X-linked thrombocytopenia with normal platelets",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010743",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010743",
                                "name": "thrombocytopenia 1",
                                "description": ""
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                            {
                                "id": "MONDO:0010743",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010743",
                                "name": "thrombocytopenia type 1",
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                            {
                                "id": "MONDO:0010743",
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                                "id": "MONDO:0010743",
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                            {
                                "id": "MONDO:0010743",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010743",
                                "name": "THC",
                                "description": ""
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                            {
                                "id": "MONDO:0010743",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010743",
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                            {
                                "id": "MONDO:0010743",
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                            {
                                "id": "MONDO:0010743",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010743",
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                                "id": "MONDO:0012775",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012775",
                                "name": "thrombocytopenia 4",
                                "description": "Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene."
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                                "id": "MONDO:0012775",
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                                "id": "MONDO:0012775",
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                            {
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                                "id": "MIM:188000",
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                            {
                                "id": "MIM:612004",
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        "title": "Contingent phosphorylation/dephosphorylation provides a mechanism of molecular memory in WASP.",
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        "authors": "Torres E, Rosen MK",
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