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BMJ Publishing Group, Journal of Medical Genetics, 8(49), p. 502-512, 2012

DOI: 10.1136/jmedgenet-2012-100875

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Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

Journal article published in 2012 by Claire Redin, Stéphanie Le Gras, Stéphanie Le Gras, Oussema Mhamdi, Véronique Geoffroy, Corinne Stoetzel, Marie-Claire Vincent, Pietro Chiurazzi, Didier Lacombe, Ines Ouertani, Florence Petit, Marianne Till, Alain Verloes, Bernard Jost, Habiba Bouhamed Chaabouni and other authors.
This paper is available in a repository.
This paper is available in a repository.

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