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'https://openalex.org/W3136959991', 'https://openalex.org/W2986365240', 'https://openalex.org/W2792839068', 'https://openalex.org/W2473092154', 'https://openalex.org/W2428663364', 'https://openalex.org/W2406195042', 'https://openalex.org/W2402440020', 'https://openalex.org/W2346661118', 'https://openalex.org/W2319086975', 'https://openalex.org/W2184680409', 'https://openalex.org/W2106250168', 'https://openalex.org/W2091870804', 'https://openalex.org/W2073725403', 'https://openalex.org/W2057564767', 'https://openalex.org/W1974990209', 'https://openalex.org/W1972964891'], 'abstract_inverted_index': {'Neurofibromatosis': [0], '类型': [1, 30], '1': [2, 31], '是有外显率的高率的普通正染色体的主导的混乱。它被肿瘤的变化引起压制或基因': [3], 'NF1,它编码': [4], 'neurofibromin。neurofibromin': [5], '的主要功能是下面调整的由充当激活蛋白质的地岬特定的': [6], 'GTPase': [7], '的': [8, 22, 26], 'proto-oncoprotein': [9], '地岬的生物学的活性。在这研究,我们鉴别与': [10], 'neurofibromatosis': [11, 29], '影响的一个中国家庭打': [12], '1。与': [13], 'NF1': [14, 16, 18, 25], '联系的已知的基因': [15], '被连接分析并且由全部编码区域和': [17], '基因的': [19], 'exon-intron': [20], '边界的直接定序学习。NF1': [21], 'R1947X': [23, 27], '变化被识别,它在未受影响的家庭成员在中国家庭,然而并非礼品与影响个人一起被共同分离。这是第一份报告,它声明': [24], '变化可以是为在中国人口的': [28], '的原因之一。': [32]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W3151813789', 'counts_by_year': [], 'updated_date': '2024-09-16T21:29:38.394586', 'created_date': '2021-04-13'}