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Journal: J. Pers. Med., 2022
Volume: 12
Number: 212
212
Article: From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene
Authors: by Ioanna Pyromali, Nesrine Benslimane, Frédéric Favreau, Cyril Goizet, Leila Lazaro, Martine Vitry, Paco Derouault, Franck Sturtz, Corinne Magdelaine and Anne-Sophie Lia
Link: https://www.mdpi.com/2075-4426/12/2/212

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