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Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency

4 Sept 2021

Abstract excerpt

STUDY QUESTION: Can a targeted whole exome sequencing (WES) on a cohort of women showing a primary ovarian insufficiency (POI) phenotype at a young age, combined with a study of copy number variations, identify variants in candidate genes confirming their deleterious effect on ovarian function? SUMMARY ANSWER: This integrated approach has proved effective in identifying novel candidate genes unveiling mechanisms...

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PMID: 34480478
DOI: 10.1093/humrep/deab192

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