Varaico: Literature-Extracted Genetic Variants

Gene:PADI6
Variant:p.L375S
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PADI6

NM_207421.4:p.L375S

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

Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith-Wiedemann progeny.

Tannorella P et al.

Clinical Epigenetics, 2022

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

Eggermann T et al.

Clinical Epigenetics, 2022

DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting.

Anvar Z et al.

Genes, 2021

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

32928291 (PubMed )
Supplement: 13148_2020_925_MOESM8_ESM.xlsx › Foglio1_

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.

Begemann M et al.

Journal of Medical Genetics, 2018

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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."