[
    {
        "title": "Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.",
        "journal": "Annals of neurology",
        "date": "2005",
        "authors": "Auer-Grumbach M, Schlotter-Weigel B, Lochmuller H, Strobl-Wildemann G, Auer-Grumbach P, Fischer R, Offenbacher H, Zwick EB, Robl T, Hartl G, Hartung HP, Wagner K, Windpassinger C",
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                ],
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            {
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        ]
    },
    {
        "title": "Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.",
        "journal": "Muscle & nerve",
        "date": "2010-09",
        "authors": "Luigetti M, Fabrizi G M, Madia F, Ferrarini M, Conte A, Delgrande A, Tonali P A, Sabatelli M",
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            "id": "20806400",
            "url": "https://pubmed.ncbi.nlm.nih.gov/20806400"
        },
        "referenced_glycans": [],
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            {
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                "tax_name": "Human"
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        ],
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                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
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        ],
        "snv": [
            {
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                    {
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                    {
                        "id": "rs137852973",
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                    {
                        "id": "rs137852973",
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                ],
                "glycoeffect": [
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                ],
                "start_pos": 90,
                "end_pos": 90,
                "sequence_org": "S",
                "sequence_mut": "L",
                "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NVS->NVL).",
                "chr_id": "11",
                "chr_pos": "62702493",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S90",
                "keywords": [
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                    "somatic",
                    "disease"
                ],
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                    {
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                            {
                                "id": "DOID:0110770",
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                            {
                                "id": "DOID:0110770",
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                            {
                                "id": "DOID:0110770",
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                            {
                                "id": "DOID:0110770",
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                            {
                                "id": "DOID:0110770",
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                            {
                                "id": "DOID:0110770",
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                            {
                                "id": "DOID:0110770",
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                            {
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                            {
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                            {
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                                "id": "MONDO:0010043",
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                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12."
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                            {
                                "id": "MONDO:0030860",
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                                "description": ""
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                            {
                                "id": "MONDO:0030860",
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                            {
                                "id": "MONDO:0030860",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0030860",
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                                "description": ""
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                            {
                                "id": "MONDO:0030860",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0030860",
                                "name": "spinal muscular atrophy, distal, type 5C",
                                "description": ""
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                            {
                                "id": "MIM:619112",
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                                "url": "https://www.omim.org/entry/619112",
                                "name": "Neuronopathy, distal hereditary motor, autosomal dominant 13",
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                                "id": "0081401",
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                ],
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    {
        "title": "Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.",
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