Varaico: Literature-Extracted Genetic Variants

Gene:PADI6
Variant:p.T669delFs
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PADI6

NM_207421.4:p.T669delFs

Associated Papers

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_MOESM6_ESM.xlsx › F3_I-2
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