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        "title": "A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.",
        "journal": "Journal of Korean medical science",
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                            "url": "https://disease-ontology.org/term/DOID:0081330",
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        "title": "A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis.",
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        "phosphorylation": [],
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    },
    {
        "title": "SLC37A4-CDG: Second patient.",
        "journal": "JIMD reports",
        "date": "2021",
        "authors": "Wilson MP, Quelhas D, Leao-Teles E, Sturiale L, Rymen D, Keldermans L, Race V, Souche E, Rodrigues E, Campos T, Van Schaftingen E, Foulquier F, Garozzo D, Matthijs G, Jaeken J",
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            "url": "https://pubmed.ncbi.nlm.nih.gov/33728255"
        },
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            {
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            }
        ],
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                "name": "Homo sapiens",
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                ],
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            }
        ],
        "snv": [
            {
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                    {
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/33964207"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 423,
                "end_pos": 423,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "R",
                "sequence_mut": "*",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/transporter).",
                "chr_id": "11",
                "chr_pos": "119024933",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R423",
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                            "description": "A female reproductive organ cancer that is located_in the uterus."
                        },
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                            {
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                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:363",
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                            },
                            {
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                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:363",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009288",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009288",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009288",
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                                "id": "MONDO:0009288",
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                                "url": "https://www.omim.org/entry/232220",
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                                "description": "Glycogen storage disease 1B"
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                            "name": "glycogen storage disease Ic",
                            "description": "A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib."
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009288",
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                            {
                                "id": "MONDO:0009288",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009288",
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                            {
                                "id": "MONDO:0009288",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009288",
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                            {
                                "id": "MONDO:0009288",
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                            {
                                "id": "MONDO:0009288",
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                            },
                            {
                                "id": "MONDO:0009288",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009288",
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                            {
                                "id": "MONDO:0009288",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009288",
                                "name": "GSD due to G6PT deficiency",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009288",
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                                "description": ""
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                            {
                                "id": "MONDO:0009288",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009288",
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                                "description": ""
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                            {
                                "id": "MONDO:0009288",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009288",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009288",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009288",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009288",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009288",
                                "name": "GSDIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009288",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009288",
                                "name": "glucose-6-phosphate transport defect",
                                "description": ""
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                            {
                                "id": "MONDO:0009288",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009288",
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                            {
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                    }
                ],
                "keywords": [
                    "biomuta",
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        ],
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    {
        "title": "A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.",
        "journal": "American journal of human genetics",
        "date": "2021",
        "authors": "Ng BG, Sosicka P, Fenaille F, Harroche A, Vuillaumier-Barrot S, Porterfield M, Xia ZJ, Wagner S, Bamshad MJ, Vergnes-Boiteux MC, Cholet S, Dalton S, Dell A, Dupre T, Fiore M, Haslam SM, Huguenin Y, Kumagai T, Kulik M, McGoogan K, Michot C, Nickerson DA, Pascreau T, Borgel D, Raymond K, Warad D, Flanagan-Steet H, Steet R, Tiemeyer M, Seta N, Bruneel A, Freeze HH",
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        ],
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