{
    "title": "A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.",
    "journal": "Human mutation",
    "date": "1999",
    "authors": "Bellone E, Di Maria E, Soriani S, Varese A, Doria LL, Ajmar F, Mandich P",
    "reference": {
        "type": "PubMed",
        "id": "10502832",
        "url": "https://pubmed.ncbi.nlm.nih.gov/10502832"
    },
    "referenced_glycans": [],
    "referenced_proteins": [
        {
            "uniprot_canonical_ac": "P11161-1",
            "protein_name": "E3 SUMO-protein ligase EGR2",
            "gene_name": "EGR2",
            "tax_name": "Human"
        }
    ],
    "species": [
        {
            "name": "Homo sapiens",
            "taxid": 9606,
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "P11161",
                    "url": "https://www.uniprot.org/uniprot/P11161"
                }
            ],
            "common_name": "Human",
            "glygen_name": "Human",
            "reference_species": "Homo sapiens [9606]"
        }
    ],
    "record_id": "pubmed.10502832",
    "abstract": "",
    "glycosylation": [],
    "mutagenesis": [],
    "snv": [],
    "phosphorylation": [],
    "glycation": [],
    "section_stats": [
        {
            "table_id": "referenced_proteins",
            "table_stats": [
                {
                    "field": "total",
                    "count": 1
                }
            ],
            "sort_fields": [
                "uniprot_canonical_ac",
                "protein_name",
                "gene_name",
                "tax_name"
            ]
        },
        {
            "table_id": "referenced_glycans",
            "table_stats": [
                {
                    "field": "total",
                    "count": 0
                }
            ],
            "sort_fields": []
        },
        {
            "table_id": "glycosylation",
            "table_stats": [
                {
                    "field": "total",
                    "count": 0
                },
                {
                    "field": "total_sites",
                    "count": 0
                },
                {
                    "field": "n_linked_glycans",
                    "count": 0
                },
                {
                    "field": "n_linked_glycan_sites",
                    "count": 0
                },
                {
                    "field": "o_linked_glycans",
                    "count": 0
                },
                {
                    "field": "o_linked_glycan_sites",
                    "count": 0
                }
            ],
            "sort_fields": []
        },
        {
            "table_id": "phosphorylation",
            "table_stats": [
                {
                    "field": "total",
                    "count": 0
                },
                {
                    "field": "total_sites",
                    "count": 0
                }
            ],
            "sort_fields": []
        },
        {
            "table_id": "glycosylation_reported",
            "table_stats": [
                {
                    "field": "total",
                    "count": 0
                },
                {
                    "field": "total_sites",
                    "count": 0
                },
                {
                    "field": "n_linked_glycans",
                    "count": 0
                },
                {
                    "field": "n_linked_glycan_sites",
                    "count": 0
                },
                {
                    "field": "o_linked_glycans",
                    "count": 0
                },
                {
                    "field": "o_linked_glycan_sites",
                    "count": 0
                }
            ],
            "sort_fields": []
        },
        {
            "table_id": "glycosylation_reported_with_glycan",
            "table_stats": [
                {
                    "field": "total",
                    "count": 0
                },
                {
                    "field": "total_sites",
                    "count": 0
                },
                {
                    "field": "n_linked_glycans",
                    "count": 0
                },
                {
                    "field": "n_linked_glycan_sites",
                    "count": 0
                },
                {
                    "field": "o_linked_glycans",
                    "count": 0
                },
                {
                    "field": "o_linked_glycan_sites",
                    "count": 0
                }
            ],
            "sort_fields": []
        },
        {
            "table_id": "glycosylation_predicted",
            "table_stats": [
                {
                    "field": "total",
                    "count": 0
                },
                {
                    "field": "total_sites",
                    "count": 0
                },
                {
                    "field": "n_linked_glycans",
                    "count": 0
                },
                {
                    "field": "n_linked_glycan_sites",
                    "count": 0
                },
                {
                    "field": "o_linked_glycans",
                    "count": 0
                },
                {
                    "field": "o_linked_glycan_sites",
                    "count": 0
                }
            ],
            "sort_fields": []
        },
        {
            "table_id": "glycosylation_automatic_literature_mining",
            "table_stats": [
                {
                    "field": "total",
                    "count": 0
                },
                {
                    "field": "total_sites",
                    "count": 0
                },
                {
                    "field": "n_linked_glycans",
                    "count": 0
                },
                {
                    "field": "n_linked_glycan_sites",
                    "count": 0
                },
                {
                    "field": "o_linked_glycans",
                    "count": 0
                },
                {
                    "field": "o_linked_glycan_sites",
                    "count": 0
                }
            ],
            "sort_fields": []
        }
    ]
}