serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit - Protein

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Case Report: Novel Compound Heterozygotic Variants in PPP2R3C Gene Causing Syndromic 46, XY Gonadal Dysgenesis and Literature Review. [Front Genet. 2022]
Case Report: Novel Compound Heterozygotic Variants in PPP2R3C Gene Causing Syndromic 46, XY Gonadal Dysgenesis and Literature Review.
Zhang W, Mao J, Wang X, Sun B, Zhao Z, Zhang X, Nie M, Wu X. Front Genet. 2022; 13:871328. Epub 2022 Jun 23.
Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis. [Clin Genet. 2022]
Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis.
Altunoglu U, Börklü E, Shukla A, Escande-Beillard N, Ledig S, Azaklı H, Nayak SS, Eraslan S, Girisha KM, Kennerknecht I, et al. Clin Genet. 2022 Feb; 101(2):221-232. Epub 2021 Nov 17.
Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C. [Eur J Endocrinol. 2021]
Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C.
Cicek D, Warr N, Yesil G, Kocak Eker H, Bas F, Poyrazoglu S, Darendeliler F, Direk G, Hatipoglu N, Eltan M, et al. Eur J Endocrinol. 2021 Dec 1; 186(1):65-72. Epub 2021 Dec 1.

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