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Quest Diagnostics

Searching Beyond Exons in Nuclear Genes: Diagnostic Deep Intronic and Mitochondrial DNA Variants in Patients With Monogenic Diabetes

2022 ACMG (American College of Medical Genetics) Annual Clinical Genetics Meeting

March 22-26, 2022, Nashville, TN

Poster presentation: Searching beyond exons in nuclear genes: Diagnostic deep intronic and mitochondrial DNA variants in patients with monogenic diabetes

Authors: Scocchia A, Gall K, Hathaway J, Taylor A, Huusko J, Bernal M, Känsäkoski J, von Nandelstadh P, Tommiska J, Saarinen I, Rantanen M, Schleit J, Gentile M,  Salmenperä P, Paananen J, Myllykangas S, Koskenvuo J

Specialties: Cardiovascular, Endocrinology, Genetics

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