Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.

Mol Genet Genomic Med · 2020 · PMC7005669 · PMID 31880409

Europe PMC DOI

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closest p

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highly significantno p-value reported

Only one full mutation carrier (262 repeats), and only two premutation carriers with ≥90 repeats and an associated highly significant chance of expansion (80% chance; ACOG Committee on Genetics, 2017b ) were identified.

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