Varaico: Literature-Extracted Genetic Variants

Gene:NLRP7
Variant:p.K379K
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NLRP7

NM_001127255.2:p.K379K

Associated Papers

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST2_Germline_Variants

Variants in Maternal Effect Genes and Relaxed Imprinting Control in a Special Placental Mesenchymal Dysplasia Case with Mild Trophoblast Hyperplasia.

Huang TC et al.

Biomedicines, 2021

Novel Nonsense Mutation in the NLRP7 Gene Associated with Recurrent Hydatidiform Mole.

Ito Y et al.

Gynecologic and Obstetric Investigation, 2016

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM3_ESM.xls › Sheet1

NLRP7 or KHDC3L genes and the etiology of molar pregnancies and recurrent miscarriage.

Andreasen L et al.

Molecular Human Reproduction, 2013

The p.L750V mutation in the NLRP7 gene is frequent in Mexican patients with recurrent molar pregnancies and is not associated with recurrent pregnancy loss.

Estrada H et al.

Prenatal Diagnosis, 2013

A strong founder effect for two NLRP7 mutations in the Indian population: an intriguing observation.

Slim R et al.

Clinical Genetics, 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

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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."