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

2022 ACMG Annual Clinical Genetics Meeting

March 22-26, 2022, Nashville, TN

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