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Journal: Diagnostics, 2024
Volume: 14
Number: 313

Article: Exome Sequencing Reveals Biallelic Mutations in MBTPS1 Gene in a Girl with a Very Rare Skeletal Dysplasia
Authors: by Víctor Raggio, Soledad Rodríguez, Sandra Feder, Rosario Gueçaimburú and Lucía Spangenberg
Link: https://www.mdpi.com/2075-4418/14/3/313

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