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Article

Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency

23 Oct 2020

Abstract excerpt

Primary ovarian insufficiency (POI) is a heterogeneous disorder associated with several genes. The majority of cases are still unsolved. Our aim was to identify the molecular diagnosis of a Brazilian cohort with POI. Genetic analysis was performed using a customized panel of targeted massively parallel sequencing (TMPS) and the candidate variants were confirmed by Sanger sequencing. Additional copy number...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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PMID: 33095795
DOI: 10.1371/journal.pone.0240795

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