Associated Papers
Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.
Cecchi AC et al.
Molecular Genetics & Genomic Medicine, 2019
31293106 (PubMed )
Supplement: MGG3-7-e836-s002.xlsx › Table_S5._Ethnicity-specific_va
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