Varaico: Literature-Extracted Genetic Variants

Gene:NLRP7
Variant:p.L750V
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NLRP7

NM_001127255.2:p.L750V

Associated Papers

Founder Variants in the Mexican Population: A Systematic Review.

Harari-Arakindji S et al.

Archives of Medical Research, 2025

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

Slim R et al.

Human Mutation, 2022

A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure.

Volozonoka L et al.

Reproduction (cambridge, England), 2022

35451369 (PubMed )
Supplement: supplementary_table_1.xlsx › S1

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

High-Risk Gestational Trophoblastic Neoplasia from a Homozygous NLRP7 Mutation.

Kopelman ZA et al.

Gynecologic Oncology Reports, 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

Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.

Rezaei M et al.

Clinical Genetics, 2021

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

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.

Reddy R et al.

European Journal of Human Genetics : Ejhg, 2016

Live births in women with recurrent hydatidiform mole and two NLRP7 mutations.

Akoury E et al.

Reproductive Biomedicine Online, 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

The p.L750V mutation in the NLRP7 gene is frequent in Mexican patients with recurrent molar pregnancies and is not associated with recurrent pregnancy loss.

Estrada H et al.

Prenatal Diagnosis, 2013

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

Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region.

Wang CM et al.

Journal of Medical Genetics, 2009

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

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