Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance

Hirokazu Kimura, Raymond M. Paranal, Neha Nanda, Laura D. Wood, James R. Eshleman, Ralph H. Hruban, Michael G. Goggins, Alison P. Klein, Randall Brand, Michele L. Cote, Mengmeng Du, Steven Gallinger, Michael Goggins, Robert C. Kurtz, Gloria M. Petersen, Anil K. Rustgi, Ann G. Schwartz, Elena M. Stoffel, Sapna Syngal, George ZogopoulosNicholas J. Roberts

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Medicine & Life Sciences