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genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.", "journal": "Clinical genetics", "date": "2022", "authors": "Yilmaz Gulec E, Turgut GT, Gezdirici A, Karaman V, Ozturk FN, Avci S, Kalayci T, Senturk L, Ayaz A, Kayserili H, Uyguner ZO, Altunoglu U", "reference": { "type": "PubMed", "id": "35699517", "url": "https://pubmed.ncbi.nlm.nih.gov/35699517" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8IXQ5-1", "protein_name": "Kelch-like protein 7", "gene_name": "KLHL7", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXQ5", "url": "https://www.uniprot.org/uniprotkb/Q8IXQ5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35699517", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], 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