Varaico: Literature-Extracted Genetic Variants

Gene:NLRP7
Variant:p.R937Splc
Back to variants list

NLRP7

NM_001127255.2:p.R937Splc

Associated Papers

Founder Variants in the Mexican Population: A Systematic Review.

Harari-Arakindji S et al.

Archives of Medical Research, 2025

Molecular Basis of Hydatidiform Moles-A Systematic Review.

Bahutair SNM et al.

International Journal of Molecular Sciences, 2024

Genetic variants underlying developmental arrests in human preimplantation embryos.

Ozturk S

Molecular Human Reproduction, 2023

NLRP7 participates in the human subcortical maternal complex and its variants cause female infertility characterized by early embryo arrest.

Han J et al.

Journal of Molecular Medicine (berlin, Germany), 2023

The genetics of recurrent hydatidiform moles in Mexico: further evidence of a strong founder effect for one mutation in NLRP7 and its widespread.

Aguinaga M et al.

Journal of Assisted Reproduction and Genetics, 2021

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

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.

Reddy R et al.

European Journal of Human Genetics : Ejhg, 2016

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

A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles.

Kou YC et al.

Molecular Human Reproduction, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."