Varaico: Literature-Extracted Genetic Variants

Gene:PADI6
Variant:p.W690*
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PADI6

NM_207421.4:p.W690*

Associated Papers

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

Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure.

Eggermann T

Geburtshilfe Und Frauenheilkunde, 2021

Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family.

Eggermann T et al.

European Journal of Human Genetics : Ejhg, 2021

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