Varaico: Literature-Extracted Genetic Variants

Gene:PADI3
Variant:p.E277_D278Splc
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PADI3

NM_016233.2:p.E277_D278Splc

Associated Papers

Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia.

Keller-Rosenthal N et al.

The Journal of Investigative Dermatology, 2025

Deimination in epidermal barrier and hair formation.

Méchin MC et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023

Variant PADI3 in Central Centrifugal Cicatricial Alopecia.

Malki L et al.

The New England Journal of Medicine, 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."