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Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

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Description scientific article
Author/s

author: Juan Pié  Paulino Gómez-Puertas  María Arnedo  Eduardo López-Viñas  Beatriz Puisac  María Concepción Gil-Rodríguez  Matthew A Deardorff  Juan Carlos de Karam  Ian D Krantz  Ana Losada  Feliciano J Ramos  Nuria Casals 

Publication date April 2010
Language English
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