Varaico: Literature-Extracted Genetic Variants

Gene:PADI3
Variant:p.R557W
Back to variants list

PADI3

NM_016233.2:p.R557W

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

Genetic screening in a Brazilian cohort with inborn errors of immunity.

Ferreira CS et al.

Bmc Genomic Data, 2023

37592284 (PubMed )
Supplement: 12863_2023_1148_MOESM5_ESM.xlsx › Secondary_variants

The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Rodriguez-Flores JL et al.

Npj Genomic Medicine, 2022

Variant PADI3 in Central Centrifugal Cicatricial Alopecia.

Malki L et al.

The New England Journal of Medicine, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."