Varaico: Literature-Extracted Genetic Variants

Gene:NLRP7
Variant:p.L670_F671delFs
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NLRP7

NM_001127255.2:p.L670_F671delFs

Associated Papers

The retrospective data analysis of NLRP7 and KHDC3L mutations in Turkish patients with recurrent hydatidiform mole.

Özer L et al.

Turkish Journal of Obstetrics and Gynecology, 2025

Variants of NLRP genes encoding subcortical maternal complex components are linked to biparental placental mesenchymal dysplasia.

Murase A et al.

Human Genomics, 2025

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.

Eggermann T et al.

Clinical Epigenetics, 2022

Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences.

Elbracht M et al.

Human Reproduction Update, 2020

Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring.

Soellner L et al.

European Journal of Human Genetics : Ejhg, 2017

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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."