Varaico: Literature-Extracted Genetic Variants

Gene:NLRP7
Variant:p.G380R
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NLRP7

NM_001127255.2:p.G380R

Associated Papers

Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Jain A et al.

Journal, Genetic Engineering & Biotechnology, 2021

34905135 (PubMed )
Supplement: 43141_2021_268_MOESM2_ESM.xlsx › Sheet1

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

KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.

Kumar K et al.

Bmc Medical Genetics, 2020

32590954 (PubMed )
Supplement: 12881_2020_1074_MOESM1_ESM.xlsx › Sheet1

Functions of NOD-Like Receptors in Human Diseases.

Zhong Y et al.

Frontiers in Immunology, 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

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

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

Recurrent hydatidiform moles.

Williams D et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2010

Genetic and epigenetic analysis of recurrent hydatidiform mole.

Hayward BE et al.

Human Mutation, 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."