Screening for Tay‐Sachs disease carriers by full‐exon...

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Molecular Genetics & Genomic Medicine 2019 / 07

Screening for Tay‐Sachs disease carriers by full‐exon sequencing with novel variant interpretation outperforms enzyme testing in a pan‐ethnic cohort

Cecchi, Alana C., Vengoechea, Elizabeth S., Kaseniit, Kristjan E., Hardy, Melanie W., Kiger, Laura A., Mehta, Nikita, Haque, Imran S., Moyer, Krista, Page, Patricia Z., Muzzey, Dale, Grinzaid, Karen A
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Language:
english
Journal:
Molecular Genetics & Genomic Medicine
DOI:
10.1002/mgg3.836
Date:
July, 2019
File:
PDF, 1.11 MB
english, 2019
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