Varaico: Literature-Extracted Genetic Variants

Gene:NLRP5
Variant:p.T694I
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NLRP5

NM_153447.4:p.T694I

Associated Papers

Genetic landscape of human oocyte/embryo defects.

Chen B et al.

Cell Genomics, 2026

41005306 (PubMed )
Supplement: mmc3.xlsx › Table_S2

The maternal protein NLRP5 stabilizes UHRF1 in the cytoplasm: implication for the pathogenesis of multilocus imprinting disturbance.

Unoki M et al.

Human Molecular Genetics, 2024

38868925 (PubMed )
Supplement: sup_info_hmg_unoki_060424_ddae096.pdf

Structural basis of the subcortical maternal complex and its implications in reproductive disorders.

Chi P et al.

Nature Structural & Molecular Biology, 2024

38177687 (PubMed )
Supplement: 41594_2023_1153_MOESM3_ESM.xlsx › Table_S1

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

Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest.

Huang L et al.

Journal of Assisted Reproduction and Genetics, 2022

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

Anvar Z et al.

Genes, 2021

A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family.

Xu Y et al.

Clinical Genetics, 2020

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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."