Varaico: Literature-Extracted Genetic Variants

Gene:PADI6
Variant:p.T669fs
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PADI6

NM_207421.4:p.T669fs

Associated Papers

Structural insight into the function of human peptidyl arginine deiminase 6.

Williams JPC et al.

Computational and Structural Biotechnology Journal, 2024

39286527 (PubMed )
Supplement: mmc3.xlsx › Fig_6B

PADI6: What we know about the elusive fifth member of the peptidyl arginine deiminase family.

Williams JPC et al.

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

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.

Eggermann T et al.

Clinical Epigenetics, 2022

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.

Cubellis MV et al.

Clinical Epigenetics, 2020

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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."