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Noncoding Variants and High-Resolution CNV Analysis are Important Contributors to the Yield of Genetic Testing in Patients with Primary Immunodeficiencies

Human Genetics Society of Australasia
45th Annual Scientific Meeting

HGSA, 2022

Perth, Australia, November 24 - 27, 2022

Poster presentation: Noncoding Variants and High-Resolution CNV Analysis are Important Contributors to the Yield of Genetic Testing in Patients with Primary Immunodeficiencies

Authors: Ziliacus E, Gall K, Powis Z, Hathaway J,Scocchia A, Hirvonen E, Kokkonen P, Saarinen I, Rantanen M, Salmenperä P, Gentile M, Schleit J, Koskinen L, Paananen J, Myllykangas S, Koskenvuo J

Specialties: Genetics, Infectious Disease

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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