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        "title": "Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein.",
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        "title": "The R2-haplotype associated Asp2194Gly mutation in the light chain of human factor V results in lower expression levels of FV, but has no influence on the glycosylation of Asn2181.",
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        "title": "Factor V I359T: a novel mutation associated with thrombosis and resistance to activated protein C.",
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    {
        "title": "Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.",
        "journal": "Human molecular genetics",
        "date": "2019",
        "authors": "Fusco C, Nardella G, Fischetto R, Copetti M, Petracca A, Annunziata F, Augello B, D'Asdia MC, Petrucci S, Mattina T, Rella A, Cassina M, Bengala M, Biagini T, Causio FA, Caldarini C, Brancati F, De Luca A, Guarnieri V, Micale L, D'Agruma L, Castori M",
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            "id": "30806661",
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                "tax_name": "Human"
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            {
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                "glygen_name": "Human",
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        ],
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            {
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                    {
                        "id": "rs119103287",
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                    {
                        "id": "rs119103287",
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                            {
                                "id": "DOID:206",
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                            },
                            {
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "MONDO:0007586",
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                            {
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                            {
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                                "id": "MONDO:0010846",
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                                "id": "MONDO:0010846",
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                            {
                                "id": "MONDO:0010846",
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                            {
                                "id": "MONDO:0010846",
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                            {
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                                "id": "206",
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                                "id": "206",
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        "title": "Structure of the human heparan sulfate polymerase complex EXT1-EXT2.",
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