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Dev.", "date": "1997", "authors": "Vidaeus C M, von Kapp-Herr C, Golden W L, Eddy R L, Shows T B, Herr J C", "reference": { "type": "PubMed", "id": "9041139", "url": "https://pubmed.ncbi.nlm.nih.gov/9041139" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q99965-1", "protein_name": "Disintegrin and metalloproteinase domain-containing protein 2", "gene_name": "ADAM2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99965", "url": "https://www.uniprot.org/uniprotkb/Q99965" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9041139", "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", 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Identification of distinct and multiple mutations in the alpha 1,4-galactosyltransferase gene in Swedish and Japanese individuals.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Furukawa K, Iwamura K, Uchikawa M, Sojka BN, Wiels J, Okajima T, Urano T, Furukawa K", "reference": { "type": "PubMed", "id": "10993874", "url": "https://pubmed.ncbi.nlm.nih.gov/10993874" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NPC4-1", "protein_name": "Lactosylceramide 4-alpha-galactosyltransferase", "gene_name": "A4GALT", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NPC4", "url": "https://www.uniprot.org/uniprotkb/Q9NPC4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10993874", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], 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"Szymczak-Kulus K, Weidler S, Bereznicka A, Mikolajczyk K, Kaczmarek R, Bednarz B, Zhang T, Urbaniak A, Olczak M, Park EY, Majorczyk E, Kapczynska K, Lukasiewicz J, Wuhrer M, Unverzagt C, Czerwinski M", "reference": { "type": "PubMed", "id": "33460651", "url": "https://pubmed.ncbi.nlm.nih.gov/33460651" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NPC4-1", "protein_name": "Lactosylceramide 4-alpha-galactosyltransferase", "gene_name": "A4GALT", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NPC4", "url": "https://www.uniprot.org/uniprotkb/Q9NPC4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.33460651", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": 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Biol. Chem.", "date": "2007", "authors": "Hillebrand Merle, Verrier Sophie E, Ohlenbusch Andreas, Sch\u00e4fer Annika, S\u00f6ling Hans-Dieter, Wouters Fred S, G\u00e4rtner Jutta", "reference": { "type": "PubMed", "id": "17609205", "url": "https://pubmed.ncbi.nlm.nih.gov/17609205" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UBJ2-1", "protein_name": "ATP-binding cassette sub-family D member 2", "gene_name": "ABCD2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P33897-1", "protein_name": "ATP-binding cassette sub-family D member 1", "gene_name": "ABCD1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P28288-1", "protein_name": "ATP-binding cassette sub-family D member 3", "gene_name": "ABCD3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBJ2", "url": "https://www.uniprot.org/uniprotkb/Q9UBJ2" } ], "common_name": "Human", "glygen_name": "Human", 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"journal": "Human mutation", "date": "2001", "authors": "Dvorakova L, Storkanova G, Unterrainer G, Hujova J, Kmoch S, Zeman J, Hrebicek M, Berger J", "reference": { "type": "PubMed", "id": "11438993", "url": "https://pubmed.ncbi.nlm.nih.gov/11438993" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P33897-1", "protein_name": "ATP-binding cassette sub-family D member 1", "gene_name": "ABCD1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P33897", "url": "https://www.uniprot.org/uniprotkb/P33897" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11438993", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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Mutat.", "date": "2005", "authors": "Montagna G, Di Biase A, Cappa M, Melone MA, Piantadosi C, Colabianchi D, Patrono C, Attori L, Cannelli N, Cotrufo R, Salvati S, Santorelli FM", "reference": { "type": "PubMed", "id": "15643618", "url": "https://pubmed.ncbi.nlm.nih.gov/15643618" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P33897-1", "protein_name": "ATP-binding cassette sub-family D member 1", "gene_name": "ABCD1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P33897", "url": "https://www.uniprot.org/uniprotkb/P33897" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15643618", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], 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Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.", "journal": "Clinical genetics", "date": "2005", "authors": "Coll MJ, Palau N, Camps C, Ruiz M, Pampols T, Giros M", "reference": { "type": "PubMed", "id": "15811009", "url": "https://pubmed.ncbi.nlm.nih.gov/15811009" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P33897-1", "protein_name": "ATP-binding cassette sub-family D member 1", "gene_name": "ABCD1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P33897", "url": "https://www.uniprot.org/uniprotkb/P33897" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15811009", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], 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