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Updated: May 6, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS
M Masciullo1, G Silvestri, A Modoni
1Department of Neurorehabilitation, IRCCS San Raffaele Pisana, Rome, Italy; Department of Geriatrics, Orthopedics and Neuroscience, Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.
No abstract available in PubMed .
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