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    },
    {
        "title": "Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.",
        "journal": "American journal of human genetics",
        "date": "1995",
        "authors": "Chou YH, Pollak MR, Brandi ML, Toss G, Arnqvist H, Atkinson AB, Papapoulos SE, Marx S, Brown EM, Seidman JG, et al.",
        "reference": {
            "type": "PubMed",
            "id": "7726161",
            "url": "https://pubmed.ncbi.nlm.nih.gov/7726161"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "P41180-1",
                "protein_name": "Extracellular calcium-sensing receptor",
                "gene_name": "CASR",
                "tax_name": "Human"
            }
        ],
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            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
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                        "id": "P41180",
                        "url": "https://www.uniprot.org/uniprotkb/P41180"
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                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
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            {
                "evidence": [
                    {
                        "id": "P41180",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P41180"
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                    {
                        "id": "rs121909266",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909266"
                    },
                    {
                        "id": "rs121909266",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs121909266"
                    },
                    {
                        "id": "7726161",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/7726161"
                    },
                    {
                        "id": "rs121909266",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121909266"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-gain"
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                "start_pos": 66,
                "end_pos": 66,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "R",
                "sequence_mut": "C",
                "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NFR->NFC).",
                "chr_id": "3",
                "chr_pos": "122257091",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "R66",
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                            {
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                            {
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                            {
                                "id": "MONDO:0008903",
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                                "id": "MONDO:0008903",
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                                "id": "MONDO:0008903",
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                                "id": "MONDO:0008903",
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                                "id": "MONDO:0008903",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011013",
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                                "description": ""
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                            {
                                "id": "MIM:601198",
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                                "url": "https://www.omim.org/entry/601198",
                                "name": "Hypocalcemia, autosomal dominant 1",
                                "description": "Hypocalcemia, autosomal dominant 1"
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                            {
                                "id": "0090107",
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                    {
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0090109",
                            "name": "autosomal dominant hypocalcemia",
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                                "id": "MONDO:0011013",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011013",
                                "name": "autosomal dominant hypocalcemia 1",
                                "description": "Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene."
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                            {
                                "id": "MONDO:0011013",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011013",
                                "name": "hypocalcemia, autosomal dominant",
                                "description": ""
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                            {
                                "id": "MONDO:0011013",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011013",
                                "name": "CASR autosomal dominant hypocalcemia",
                                "description": ""
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                            {
                                "id": "MONDO:0011013",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011013",
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                            {
                                "id": "MONDO:0011013",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011013",
                                "name": "autosomal dominant hypocalcemia caused by mutation in CASR",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011013",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011013",
                                "name": "autosomal dominant hypocalcemia type 1",
                                "description": ""
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                            {
                                "id": "MONDO:0011013",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011013",
                                "name": "hypocalcemia, autosomal dominant type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011013",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011013",
                                "name": "hypocalcemia, autosomal dominant, with Bartter syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011013",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011013",
                                "name": "hypocalcemia, autosomal dominant 1",
                                "description": ""
                            },
                            {
                                "id": "MIM:601198",
                                "resource": "MIM",
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        "authors": "Schmidt MHH, Dikic I, Bogler O",
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