从下一代序列到表型:探索Bainbridge-Ropers综合征与ASXL3的功能变异丧失

Journal of rare diseases research & treatment Pub Date : 2019-01-01 DOI:10.29245/2572-9411/2019/1.1160

S. Contreras-Capetillo, M. Abreu-González

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摘要

From Next Generation to the Phenotype序列:the Bainbridge-Ropers综合症with Loss of Function Variants in ASXL3 mare,诺埃Contreras-Capetillo1 *、黑色素Abreu-González2 1Laboratorio遗传学、区域医疗博士研究中心、尤卡坦半岛,墨西哥的梅里达2Laboratorio分子生物学和大规模测序。Genos medica，遗传学专业中心，墨西哥城，墨西哥

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From Next Generation Sequence to the Phenotype: Exploring the Bainbridge-Ropers Syndrome with Loss of Function Variants in ASXL3

From Next Generation Sequence to the Phenotype: Exploring the Bainbridge-Ropers Syndrome with Loss of Function Variants in ASXL3 Silvina Noemí Contreras-Capetillo1*, Melania Abreu-González2 1Laboratorio de Genética, Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Mérida, Yucatán, México 2Laboratorio de Biología Molecular y Secuenciación Masiva. Genos Médica, Centro Especializado en Genética, Ciudad de México, México

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Journal of rare diseases research & treatment

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