Varaico: Literature-Extracted Genetic Variants

Gene:OOEP
Variant:p.R37W
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OOEP

NM_001080507.3:p.R37W

Associated Papers

Advances in the genetic etiology of female infertility.

Gu R et al.

Journal of Assisted Reproduction and Genetics, 2024

Genetic variants underlying developmental arrests in human preimplantation embryos.

Ozturk S

Molecular Human Reproduction, 2023

Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest.

Tong X et al.

Human Mutation, 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."