[
    {
        "title": "Recurrent bacterial infections in four siblings with neutropenia, eosinophilia, hyperimmunoglobulinemia A, and defective neutrophil chemotaxis.",
        "journal": "The Journal of infectious diseases",
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    {
        "title": "Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.",
        "journal": "The Journal of allergy and clinical immunology",
        "date": "2014",
        "authors": "Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, Patiroglu T, Unal E, Ozdemir MA, Jouhadi Z, Khadir K, Ben-Khemis L, Ben-Ali M, Ben-Mustapha I, Borchani L, Pfeifer D, Jakob T, Khemiri M, Asplund AC, Gustafsson MO, Lundin KE, Falk-Sorqvist E, Moens LN, Gungor HE, Engelhardt KR, Dziadzio M, Stauss H, Fleckenstein B, Meier R, Prayitno K, Maul-Pavicic A, Schaffer S, Rakhmanov M, Henneke P, Kraus H, Eibel H, Kolsch U, Nadifi S, Nilsson M, Bejaoui M, Schaffer AA, Smith CI, Dell A, Barbouche MR, Grimbacher B",
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                "glytoucan_ac": "G23863VK",
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                    "name": "blood serum",
                    "namespace": "UBERON",
                    "id": "0001977",
                    "url": "http://purl.obolibrary.org/obo/UBERON_0001977"
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                "species": {
                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]",
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                    "glygen_name": "Human"
                },
                "cell_line": {},
                "uniprot_canonical_ac": "P01854-2"
            }
        ],
        "record_id": "pubmed.24698316",
        "abstract": "",
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                        "count": 52
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                ],
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        ]
    },
    {
        "title": "PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.",
        "journal": "American journal of human genetics",
        "date": "2014",
        "authors": "Stray-Pedersen A, Backe PH, Sorte HS, Morkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstoen KB, Bjoras M, Wlodarski MW, Kruger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J, Nishimura G, Rustad CF, Abrahamsen TG, Ronnestad A, Osnes LT, Egeland T, Rodningen OK, Beck CR, Boerwinkle EA, Gibbs RA, Lupski JR, Orange JS, Lausch E, Hanson IC",
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            "type": "PubMed",
            "id": "24931394",
            "url": "https://pubmed.ncbi.nlm.nih.gov/24931394"
        },
        "referenced_glycans": [],
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            {
                "uniprot_canonical_ac": "O95394-1",
                "protein_name": "Phosphoacetylglucosamine mutase",
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        ],
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            {
                "name": "Homo sapiens",
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                    {
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        ],
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            {
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                    {
                        "id": "rs869312886",
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                ],
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                "sequence_mut": "H",
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                            {
                                "id": "DOID:11934",
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                            {
                                "id": "DOID:11934",
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                                "name": "head/neck neoplasm",
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                            {
                                "id": "DOID:11934",
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                            {
                                "id": "DOID:0111953",
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                                "id": "MONDO:0014353",
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                            {
                                "id": "MONDO:0014353",
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                            {
                                "id": "MONDO:0014353",
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                            {
                                "id": "MONDO:0014353",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014353",
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                                "description": ""
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                            {
                                "id": "MONDO:0014353",
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                            {
                                "id": "MONDO:0014353",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014353",
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                            {
                                "id": "MONDO:0014353",
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                                "id": "MONDO:0014353",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014353",
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                            {
                                "id": "MONDO:0014353",
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                            {
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                            {
                                "id": "MONDO:0014353",
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                            {
                                "id": "MONDO:0014353",
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                                "id": "MONDO:0014353",
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                            {
                                "id": "MONDO:0014353",
                                "resource": "MONDO",
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                                "id": "MONDO:0014353",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014353",
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                            {
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    {
        "title": "Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene.",
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        "authors": "Lundin Karin E, Hamasy Abdulrahman, Backe Paul Hoff, Moens Lotte N, Falk-S\u00f6rqvist Elin, Elgst\u00f8en Katja B, M\u00f8rkrid Lars, Bj\u00f8r\u00e5s Magnar, Granert Carl, Norlin Anna-Carin, Nilsson Mats, Christensson Birger, Stenmark Stephan, Smith C I Edvard",
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