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The older female relatives of family 1 who harbor this variant experienced premature menopause. To our knowledge, this is the first report where the c.251GA (p.Arg84His) variant is associated with the presence of Müllerian remnants in 46,XY subjects and primary ovarian insufficiency in 46,XX individuals. The segregation of this variant with clinical manifestations provides further evidence for considering it as pathogenic. A (p.Arg84His) variant is associated with the presence of Müllerian remnants in 46,XY subjects and primary ovar
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