Varaico: Literature-Extracted Genetic Variants

Gene:NLRP7
Variant:p.E99*
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NLRP7

NM_001127255.2:p.E99*

Associated Papers

Advances in monogenic female infertility.

Gu H et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

The retrospective data analysis of NLRP7 and KHDC3L mutations in Turkish patients with recurrent hydatidiform mole.

Özer L et al.

Turkish Journal of Obstetrics and Gynecology, 2025

Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus.

Slim R et al.

Human Mutation, 2022

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

Anvar Z et al.

Genes, 2021

NLRP7: From inflammasome regulation to human disease.

Carriere J et al.

Immunology, 2021

Abnormal processing of IL-1β in NLRP7-mutated monocytes in hydatidiform mole patients.

Zhang P et al.

Clinical and Experimental Immunology, 2020

Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring.

Soellner L et al.

European Journal of Human Genetics : Ejhg, 2017

Pathogenic variant in NLRP7 (19q13.42) associated with recurrent gestational trophoblastic disease: Data from early embryo development observed during in vitro fertilization.

Sills ES et al.

Clinical and Experimental Reproductive Medicine, 2017

Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.

Nguyen NM et al.

Journal of Medical Genetics, 2014

The genetics of recurrent hydatidiform moles in China: correlations between NLRP7 mutations, molar genotypes and reproductive outcomes.

Qian J et al.

Molecular Human Reproduction, 2011

[Family pedigree analysis in family member with history of hydatidiform mole and the NLRP7 gene expression].

Li Y et al.

Zhonghua Fu Chan Ke Za Zhi, 2011

[Review: Repetitive hydatidiform moles].

Muhlstein J et al.

Gynecologie, Obstetrique & Fertilite, 2010

Genetic and epigenetic analysis of recurrent hydatidiform mole.

Hayward BE et al.

Human Mutation, 2009

NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation.

Deveault C et al.

Human Molecular Genetics, 2009

Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations.

Qian J et al.

Human Mutation, 2007

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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."