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Updated: Oct 31, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal

Francesco Testa1, Andrea Sodi2, Sabrina Signorini3

  • 1Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania "Luigi Vanvitelli", Naples, Italy.

Investigative Ophthalmology & Visual Science
|July 1, 2021
PubMed
Abstract

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