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. 2021 Nov 4;12:664645. doi: 10.3389/fendo.2021.664645

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Copyright © 2021 Rossetti, Moleri, Guizzardi, Gentilini, Libera, Marozzi, Moretti, Brancati, Bonomi and Persani

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Graph representations of the number of variants identified by NGS analysis in two subgroups of primary ovarian insufficiency (POI) patients. For each patient, indicated are the ID number (x-axis) and the number of variants/genes found altered (1 = 1 variant/gene; 2 = 2 variants/gene). Each color represents a different pathway: cell cycle, meiosis, and DNA repair (orange); ECM remodeling (blue); reproduction (green); cell metabolism (cyan); cell proliferation (purple); calcium release (pink); NOTCH signaling (red); signal transduction (yellow); WNT signaling (light orange); cell death (gray); and ubiquitination (dark blue). (A) The histogram reports the variants found by screening 295 candidate genes included in the OVO-Array panel. (B) NGS results of the analysis for diagnostic purposes of nine known POI genes.