Varaico: Literature-Extracted Genetic Variants

Gene:NLRP7
Variant:p.R701C
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NLRP7

NM_001127255.2:p.R701C

Associated Papers

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

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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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."