Varaico: Literature-Extracted Genetic Variants

Gene:NLRP7
Variant:p.C761Y
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NLRP7

NM_001127255.2:p.C761Y

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

NLRP7: From inflammasome regulation to human disease.

Carriere J et al.

Immunology, 2021

NLRP7 and KHDC3L variants in Chinese patients with recurrent hydatidiform moles.

Ji M et al.

Japanese Journal of Clinical Oncology, 2019

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

Histopathological features of biparental complete hydatidiform moles in women with NLRP7 mutations.

Sebire NJ et al.

Placenta, 2013

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."