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Sara Locci
Sara Locci
University of Siena
Medicine
Compound heterozygosity
In silico
Missense mutation
Disease
2
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Gordon Holmes syndrome caused by two novel mutations in the PNPLA6 gene
2021
Clinical Neurology and Neurosurgery
Sara Locci
Silvia Bianchi
Alessandra Tessa
Filippo M. Santorelli
Andrea Mignarri
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Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia
2021
Neurological Sciences
Sara Locci
Rosanna Cardani
Paola Brunori
Sabrina Lucchiari
Giacomo P. Comi
Antonio Federico
Nicola De Stefano
Giovanni Meola
Andrea Mignarri
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