Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R5D
Variant:p.R441Q
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PPP2R5D

NM_006245.4:p.R441Q

Associated Papers

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.

Anderson KJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40385454 (PubMed )
Supplement: media-1.xlsx › Supp._Table_2_-_LOF___splice
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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."