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Screening for Tay‐Sachs disease carriers by full‐exon sequencing with novel variant interpretation outperforms enzyme testing in a pan‐ethnic cohort by Alana C. Cecchi, Elizabeth S. Vengoechea, Kristjan E. Kaseniit, Melanie W. Hardy, Laura A. Kiger, Nikita Mehta, Imran S. Haque, Krista Moyer, Patricia Z. Page, Dale Muzzey, Karen A. Grinzaid
Published 2019-08-01
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