Varaico: Literature-Extracted Genetic Variants

Gene:NLRP7
Variant:p.K379N
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NLRP7

NM_001127255.2:p.K379N

Associated Papers

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

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

Zhang P et al.

Clinical and Experimental Immunology, 2020

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

Mahadevan S et al.

Prenatal Diagnosis, 2013

NLRP7 mutation analysis in sporadic hydatidiform moles in Tunisian patients: NLRP7 and sporadic mole.

Landolsi H et al.

Archives of Pathology & Laboratory Medicine, 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

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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