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Standardized Assessment of the Relationship Between Select Nuclear Genes and Primary Mitochondrial Disease using the ClinGen Clinical Validity Framework

MITOMED 2025

United Mitochondrial Disease Foundation

St Louis, MO, June 18-21, 2025

Poster presentation: Standardized Assessment of the Relationship Between Select Nuclear Genes and Primary Mitochondrial Disease using the ClinGen Clinical Validity Framework

Authors: McCormick EM, Peterson JT, Taylor JP, Ertmanska I, Bluske K, Clause AR, Chandrasekhar A,  Lowry J, Coffey AJ, Gai X, Falk MJ, Zolkipli-Cunningham Z, Rahman S

Medical Specialty: 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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