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Published in 2024 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6712
Abstract: Accurate recurrence risks are essential for genomic counselling and parental reproductive choices. Historically, Sanger sequencing was used to test parental samples, which has a limited sensitivity of ∼ 10% for detecting somatic mosaicism. Next generation…
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Keywords:
mosaicism detected;
parental somatic;
somatic mosaicism;
prenatal diagnosis ... See more keywords