Varaico: Literature-Extracted Genetic Variants

Gene:NLRP7
Variant:p.V319I
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NLRP7

NM_001127255.2:p.V319I

Associated Papers

Aberrant hypomethylation at imprinted differentially methylated regions is involved in biparental placental mesenchymal dysplasia.

Aoki S et al.

Clinical Epigenetics, 2022

Variants in Maternal Effect Genes and Relaxed Imprinting Control in a Special Placental Mesenchymal Dysplasia Case with Mild Trophoblast Hyperplasia.

Huang TC et al.

Biomedicines, 2021

NLRP7 and KHDC3L variants in Chinese patients with recurrent hydatidiform moles.

Ji M et al.

Japanese Journal of Clinical Oncology, 2019

Novel Nonsense Mutation in the NLRP7 Gene Associated with Recurrent Hydatidiform Mole.

Ito Y et al.

Gynecologic and Obstetric Investigation, 2016

No evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertility.

Aghajanova L et al.

Human Reproduction (oxford, England), 2015

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

No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles.

Mahadevan S et al.

Prenatal Diagnosis, 2013

Maternal NLRP7 and C6orf221 variants are not a common risk factor for androgenetic moles, triploidy and recurrent miscarriage.

Manokhina I et al.

Molecular Human Reproduction, 2013

Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221.

Andreasen L et al.

Molecular Human Reproduction, 2012

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

Dixon PH et al.

Journal of Medical Genetics, 2012

NLRP7 and the genetics of post-molar choriocarcinomas in Senegal.

Slim R et al.

Molecular Human Reproduction, 2012

NLRP7, a nucleotide oligomerization domain-like receptor protein, is required for normal cytokine secretion and co-localizes with Golgi and the microtubule-organizing center.

Messaed C et al.

The Journal of Biological Chemistry, 2011

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

NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage.

Messaed C et al.

Journal of Medical Genetics, 2011

A strong founder effect for two NLRP7 mutations in the Indian population: an intriguing observation.

Slim R et al.

Clinical 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."