Varaico: Literature-Extracted Genetic Variants

Gene:NLRP7
Variant:p.Y318fs
Back to variants list

NLRP7

NM_001127255.2:p.Y318fs

Associated Papers

Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus.

Slim R et al.

Human Mutation, 2022

Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnancies.

Cozette C et al.

Journal of Assisted Reproduction and Genetics, 2020

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

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."