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Characterization of Molecular Diagnosis of Inherited Retinal Disease Within a Large Pediatric Cohort Undergoing Comprehensive Retinal Dystrophy Panel Next-Generation Sequencing Analysis

National Society of Genetic Councelors
41st Annual Conference

NSG 2022

Nashville, TN, November 16 - 20, 2022

Poster presentation: Characterization of molecular diagnosis of inherited retinal disease within a large pediatric cohort undergoing comprehensive retinal dystrophy panel next-generation sequencing analysis

Authors: Fuqua L, Navarro I, Gall K, Hathaway J, Alicia Scocchia, Kämpjärvi K, Känsäkoski J, von Nandelstadh P, Gandia M, Vattulainen-Collanus S, Mak K-Y, Mikk M-L, Sonia Casanovas S, Sarantaus L, Västinsalo H,Saarine I,  Tuupanen S, Koskenvuo J

Specialties: Genetics

Disclaimer:  One or more of the authors of this publication were employed at the time by Blueprint Genetics, a subsidiary of Quest Diagnostics.

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