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Small CNVs, Noncoding, and Mitochondrial Variants Are Molecularly Diagnostic for 4.7% of Pediatric Patients With Inherited Retinal Disease

Canadian Association of Genetic Councellors
CAGC 2022

Virtual, October 12 - 15, 2022

Poster presentation: Small CNVs, noncoding, and mitochondrial variants are molecularly diagnostic for 4.7% of pediatric patients with inherited retinal disease

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

Specialties: Genetics, Pediatrics

 

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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