Varaico: Literature-Extracted Genetic Variants

Gene:NLRP2
Variant:p.R115*
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NLRP2

NM_017852.5:p.R115*

Associated Papers

Two Novel Protein-Truncating Variants in NLRP2 and Their Functional Impacts on the Subcortical Maternal Complex.

Yalcin Z et al.

Clinical Genetics, 2025

39905760 (PubMed )
Supplement: CGE-108-179-s002.xlsx › Sheet1

A novel homozygous mutation in the NLRP2 gene causes early embryonic arrest.

Chai M et al.

Journal of Assisted Reproduction and Genetics, 2024

Variants in NLRP2 and ZFP36L2, non-core components of the human subcortical maternal complex, cause female infertility with embryonic development arrest.

Rui X et al.

Molecular Human Reproduction, 2024

Genetic variants underlying developmental arrests in human preimplantation embryos.

Ozturk S

Molecular Human Reproduction, 2023

Expanding the genetic and phenotypic spectrum of the subcortical maternal complex genes in recurrent preimplantation embryonic arrest.

Zheng W et al.

Clinical Genetics, 2021

Divergent Roles of PI3K Isoforms in PTEN-Deficient Glioblastomas.

Xie S et al.

Cell Reports, 2020

32997991 (PubMed )
Supplement: NIHMS1633676-supplement-2.xlsx › BT224_Mutations
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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."