Varaico: Literature-Extracted Genetic Variants

Gene:PADI3
Variant:p.R652K
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PADI3

NM_016233.2:p.R652K

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

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2

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."