Varaico: Literature-Extracted Genetic Variants

Gene:NLRP7
Variant:p.S824Splc
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NLRP7

NM_001127255.2:p.S824Splc

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

High Risk of Gestational Trophoblastic Neoplasia Development in Recurrent Hydatidiform Moles with NLRP7 Pathogenic Variations.

Kocabey M et al.

Balkan Journal of Medical Genetics : Bjmg, 2023

Genetic screening of Chinese patients with hydatidiform mole by whole-exome sequencing and comprehensive analysis.

Yang J 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

NLRP7: From inflammasome regulation to human disease.

Carriere J et al.

Immunology, 2021

The genetics of recurrent hydatidiform moles in Mexico: further evidence of a strong founder effect for one mutation in NLRP7 and its widespread.

Aguinaga M et al.

Journal of Assisted Reproduction and Genetics, 2021

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

Zhang P et al.

Clinical and Experimental Immunology, 2020

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants

Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles.

Dixon PH et al.

Journal of Medical Genetics, 2012

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

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

A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles.

Kou YC et al.

Molecular Human Reproduction, 2008

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."