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presented with thick nuchal translucency and cardiac abnormalities.", "journal": "Prenatal diagnosis", "date": "2023-12", "authors": "Yu Qiu-Xia, Zhen Li, Lin Xiao-Mei, Wen Yun-Jing, Li Dong-Zhi", "reference": { "type": "PubMed", "id": "37936555", "url": "https://pubmed.ncbi.nlm.nih.gov/37936555" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8N653-1", "protein_name": "Leucine-zipper-like transcriptional regulator 1", "gene_name": "LZTR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N653", "url": "https://www.uniprot.org/uniprotkb/Q8N653" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37936555", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", 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Mol. 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Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A, Gelb BD, Kurth I, Hempel M, Kutsche K", "reference": { "type": "PubMed", "id": "32761064", "url": "https://pubmed.ncbi.nlm.nih.gov/32761064" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8WXG6-1", "protein_name": "MAP kinase-activating death domain protein", "gene_name": "MADD", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WXG6", "url": "https://www.uniprot.org/uniprotkb/Q8WXG6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32761064", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", 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biallelic MAPK-activating death domain protein (MADD) variant: Further phenotypic delineation of MADD deficiency.", "journal": "American journal of medical genetics. 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Frank-Garcia A, Porcellini E, Hanon O, Coto E, Alvarez V, Bosco P, Siciliano G, Mancuso M, Panza F, Solfrizzi V, Nacmias B, Sorbi S, Bossu P, Piccardi P, Arosio B, Annoni G, Seripa D, Pilotto A, Scarpini E, Galimberti D, Brice A, Hannequin D, Licastro F, Jones L, Holmans PA, Jonsson T, Riemenschneider M, Morgan K, Younkin SG, Owen MJ, O'Donovan M, Amouyel P, Williams J", "reference": { "type": "PubMed", "id": "21460840", "url": "https://pubmed.ncbi.nlm.nih.gov/21460840" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H2W1-1", "protein_name": "Membrane-spanning 4-domains subfamily A member 6A", "gene_name": "MS4A6A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H2W1", "url": "https://www.uniprot.org/uniprotkb/Q9H2W1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21460840", "abstract": "", 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"journal": "Oncogene", "date": "1988", "authors": "King H W, Tempest P R, Merrifield K R, Rance A J", "reference": { "type": "PubMed", "id": "3387099", "url": "https://pubmed.ncbi.nlm.nih.gov/3387099" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P12270-1", "protein_name": "Nucleoprotein TPR", "gene_name": "TPR", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P12270", "url": "https://www.uniprot.org/uniprotkb/P12270" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.3387099", "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" ] }, { "table_id": 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intellectual disability in humans.", "journal": "Human molecular genetics", "date": "2022-02-03", "authors": "Van Bergen Nicole J, Bell Katrina M, Carey Kirsty, Gear Russell, Massey Sean, Murrell Edward K, Gallacher Lyndon, Pope Kate, Lockhart Paul J, Kornberg Andrew, Pais Lynn, Walkiewicz Marzena, Simons Cas, , Wickramasinghe Vihandha O, White Susan M, Christodoulou John", "reference": { "type": "PubMed", "id": "34494102", "url": "https://pubmed.ncbi.nlm.nih.gov/34494102" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P12270-1", "protein_name": "Nucleoprotein TPR", "gene_name": "TPR", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P12270", "url": "https://www.uniprot.org/uniprotkb/P12270" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.34494102", "abstract": "", "glycosylation": [], "mutagenesis": 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