Varaico: Literature-Extracted Genetic Variants

Gene:NLRP7
Variant:p.P716A
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NLRP7

NM_001127255.2:p.P716A

Associated Papers

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

Slim R et al.

Human Mutation, 2022

NLRP7: From inflammasome regulation to human disease.

Carriere J et al.

Immunology, 2021

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

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

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

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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."