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Published in 2025 at "Genes"
DOI: 10.3390/genes16060619
Abstract: Darier′s disease (DD) is a rare, autosomal dominant genodermatosis caused by pathogenic variants in the ATP2A2 gene, which encodes the SERCA2 protein, an endoplasmic reticulum ATPase Ca2+ transporter. These mutations impair the intracellular calcium homeostasis…
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Keywords:
genetics;
insights pathogenic;
new insights;
genetics darier ... See more keywords