Varaico: Literature-Extracted Genetic Variants

Gene:NLRP7
Variant:p.G118Splc
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NLRP7

NM_001127255.2:p.G118Splc

Associated Papers

Advances in monogenic female infertility.

Gu H et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting.

Anvar Z et al.

Genes, 2021

Live births in women with recurrent hydatidiform mole and two NLRP7 mutations.

Akoury E et al.

Reproductive Biomedicine Online, 2015

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

Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221.

Andreasen L et al.

Molecular Human Reproduction, 2012

Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles.

Dixon PH et al.

Journal of Medical Genetics, 2012

Genetic and epigenetic analysis of recurrent hydatidiform mole.

Hayward BE et al.

Human Mutation, 2009

Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations.

Qian J et al.

Human Mutation, 2007

Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.

Murdoch S et al.

Nature Genetics, 2006

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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."