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a Spanish family with central areolar choroidal dystrophy.", "journal": "Ophthalmic genetics", "date": "1995", "authors": "Reig C, Serra A, Gean E, Vidal M, Arumi J, De la Calzada MD, Antich J, Carballo M", "reference": { "type": "PubMed", "id": "7493155", "url": "https://pubmed.ncbi.nlm.nih.gov/7493155" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P23942-1", "protein_name": "Peripherin-2", "gene_name": "PRPH2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprotkb/P23942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7493155", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.", "journal": "Ophthalmology", "date": "1995", "authors": "Gorin MB, Jackson KE, Ferrell RE, Sheffield VC, Jacobson SG, Gass JD, Mitchell E, Stone EM", "reference": { "type": "PubMed", "id": "7862413", "url": "https://pubmed.ncbi.nlm.nih.gov/7862413" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P23942-1", "protein_name": "Peripherin-2", "gene_name": "PRPH2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprotkb/P23942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7862413", "abstract": "", 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or macular degeneration lead to the same abnormality in photoreceptor function.", "journal": "Investigative ophthalmology & visual science", "date": "1994-07", "authors": "Kemp C M, Jacobson S G, Cideciyan A V, Kimura A E, Sheffield V C, Stone E M", "reference": { "type": "PubMed", "id": "8045710", "url": "https://pubmed.ncbi.nlm.nih.gov/8045710" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P23942-1", "protein_name": "Peripherin-2", "gene_name": "PRPH2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprotkb/P23942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8045710", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { 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macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.", "journal": "Human mutation", "date": "1997", "authors": "Felbor U, Schilling H, Weber BH", "reference": { "type": "PubMed", "id": "9338584", "url": "https://pubmed.ncbi.nlm.nih.gov/9338584" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P23942-1", "protein_name": "Peripherin-2", "gene_name": "PRPH2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23942", "url": "https://www.uniprot.org/uniprotkb/P23942" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9338584", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", 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], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene.", "journal": "American journal of human genetics", "date": "1998", "authors": "Payne AM, Downes SM, Bessant DA, Bird AC, Bhattacharya SS", "reference": { "type": "PubMed", "id": "9443872", "url": "https://pubmed.ncbi.nlm.nih.gov/9443872" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P23942-1", "protein_name": 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"field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Molecular cloning and characterization of the platelet-activating factor receptor gene expressed in the human heart.", "journal": "Biochemical and biophysical research communications", "date": "1992", "authors": "Sugimoto T, Tsuchimochi H, McGregor CG, Mutoh H, Shimizu T, Kurachi Y", "reference": { "type": "PubMed", "id": "1281995", "url": "https://pubmed.ncbi.nlm.nih.gov/1281995" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P25105-1", "protein_name": "Platelet-activating factor receptor", "gene_name": "PTAFR", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P25105", "url": "https://www.uniprot.org/uniprotkb/P25105" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1281995", 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