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Updated: Feb 28, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Expanding the spectrum of Darier Disease variants: 13 novel ATP2A2 genetic variations discovered in an Italian

Chiara Stefani1, Paola de Gemmis1, Paola Cattelan1

  • 1Medical Genetics Unit, 'Mauro Baschirotto' Institute for Rare Diseases, 36023 Costozza di Longare, Vicenza, Italy.

Gene
|February 26, 2026
PubMed

Keywords:
ATP2A2Darier diseaseGenetic variationsGenodermatosisIn silico analysisItalian cohortKeratosis follicularisSERCA2

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