Varaico: Literature-Extracted Genetic Variants

Gene:NLRP7
Variant:p.D722G
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NLRP7

NM_001127255.2:p.D722G

Associated Papers

Novo pathogenic variations of NLRP7 increasing the risk of gestational trophoblastic neoplasia.

Tao C et al.

Clinical Genetics, 2023

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

Slim R et al.

Human Mutation, 2022

[Analysis of three Chinese pedigrees affected with recurrent hydatidiform mole due to variants of NLRP7 gene].

Shen J et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022

Detection of Parental Contribution to Molar Genome Leads to Diagnosis of Recurrent Hydatidiform Mole in a Family with NLRP7 Variants.

Wang RY et al.

Fetal and Pediatric Pathology, 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

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 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

[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

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

Deveault C et al.

Human Molecular Genetics, 2009

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