Varaico: Literature-Extracted Genetic Variants

Gene:NLRP2
Variant:p.S654*
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NLRP2

NM_017852.5:p.S654*

Associated Papers

Genetic landscape of human oocyte/embryo defects.

Chen B et al.

Cell Genomics, 2026

41005306 (PubMed )
Supplement: mmc3.xlsx › Table_S2

A novel homozygous mutation in the NLRP2 gene causes early embryonic arrest.

Chai M et al.

Journal of Assisted Reproduction and Genetics, 2024

Variants in NLRP2 and ZFP36L2, non-core components of the human subcortical maternal complex, cause female infertility with embryonic development arrest.

Rui X et al.

Molecular Human Reproduction, 2024

Genetic variants underlying developmental arrests in human preimplantation embryos.

Ozturk S

Molecular Human Reproduction, 2023

Gene mutations impede oocyte maturation, fertilization, and early embryonic development.

Fei CF et al.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2022

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

Anvar Z et al.

Genes, 2021

Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest.

Mu J et al.

Journal of Medical Genetics, 2019

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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."