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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
VÃctor Raggio, Soledad RodrÃguez, Sandra Feder, Rosario Gueçaimburú and LucÃa Spangenberg
Link:
https://www.mdpi.com/2075-4418/14/3/313
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