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Updated: Dec 30, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
New biallelic GBA2 variant in a patient with SPG46
Carlotta Spagnoli1, Silvia Schiavoni1, Susanna Rizzi1
1Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy.
No abstract available in PubMed .
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