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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.", "journal": "Clinical genetics", "date": "2014", "authors": "Shaaban S, Duzcan F, Yildirim C, Chan WM, Andrews C, Akarsu NA, Engle EC", "reference": { "type": "PubMed", "id": "23808592", "url": "https://pubmed.ncbi.nlm.nih.gov/23808592" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O95672-1", "protein_name": "Endothelin-converting enzyme-like 1", "gene_name": "ECEL1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95672", "url": "https://www.uniprot.org/uniprotkb/O95672" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.23808592", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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J. Hum. Genet.", "date": "2001", "authors": "Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ", "reference": { "type": "PubMed", "id": "11090341", "url": "https://pubmed.ncbi.nlm.nih.gov/11090341" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O95905-1", "protein_name": "Protein ecdysoneless homolog", "gene_name": "ECD", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H251-1", "protein_name": "Cadherin-23", "gene_name": "CDH23", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprotkb/O95905" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo 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Gurumurthy Channabasavaiah B, Kim Junhyun, Bhat Ishfaq, Gao Qingshen, Dimri Goberdhan, Lee Sam W, Band Hamid, Band Vimla", "reference": { "type": "PubMed", "id": "16849563", "url": "https://pubmed.ncbi.nlm.nih.gov/16849563" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O95905-1", "protein_name": "Protein ecdysoneless homolog", "gene_name": "ECD", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprotkb/O95905" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16849563", "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", "gene_name", "tax_name" 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"journal": "The Journal of biological chemistry", "date": "2024-04", "authors": "Lee Ye Hyung, Yoon A-Rum, Yun Chae-Ok, Chung Kwang Chul", "reference": { "type": "PubMed", "id": "38519031", "url": "https://pubmed.ncbi.nlm.nih.gov/38519031" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O43781-1", "protein_name": "Dual specificity tyrosine-phosphorylation-regulated kinase 3", "gene_name": "DYRK3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43781", "url": "https://www.uniprot.org/uniprotkb/O43781" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38519031", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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