Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R3C
Variant:p.L103P
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PPP2R3C

NM_017917.4:p.L103P

Associated Papers

A disease-associated PPP2R3C-MAP3K1 phospho-regulatory module controls centrosome function.

Ganga AK et al.

Current Biology : Cb, 2024

A disease-associated PPP2R3C-MAP3K1 phospho-regulatory module controls centrosome function.

Ganga AK et al.

Biorxiv : the Preprint Server for Biology, 2024

Case Report: Novel Compound Heterozygotic Variants in PPP2R3C Gene Causing Syndromic 46, XY Gonadal Dysgenesis and Literature Review.

Zhang W et al.

Frontiers in Genetics, 2022

The role of serine/threonine phosphatases in human development: Evidence from congenital disorders.

Vaneynde P et al.

Frontiers in Cell and Developmental Biology, 2022

Protein phosphatase 2A - structure, function and role in neurodevelopmental disorders.

Sandal P et al.

Journal of Cell Science, 2021

PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans.

Guran T et al.

European Journal of Endocrinology, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."