Varaico: Literature-Extracted Genetic Variants

Gene:NLRP2
Variant:p.K219_T221delFs
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NLRP2

NM_017852.5:p.K219_T221delFs

Associated Papers

Genomics Driving Diagnosis and Treatment of Inborn Errors of Immunity With Cancer Predisposition.

Barmettler S et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2022

Current status of inherited pancreatic cancer.

Olakowski M et al.

Hereditary Cancer in Clinical Practice, 2022

Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome.

Habib R et al.

Aging, 2020

Chromosomal instability associated with adverse outcome: a case report of patient with Nijmegen breakage syndrome and rapidly developed T-NHL with complex karyotype.

Włodarczyk M et al.

Molecular Cytogenetics, 2020

Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5.

Sharapova SO et al.

Frontiers in Immunology, 2020

DNA damage response and hematological malignancy.

Takagi M

International Journal of Hematology, 2017

Prospective Study of a Cohort of Russian Nijmegen Breakage Syndrome Patients Demonstrating Predictive Value of Low Kappa-Deleting Recombination Excision Circle (KREC) Numbers and Beneficial Effect of Hematopoietic Stem Cell Transplantation (HSCT).

Deripapa E et al.

Frontiers in Immunology, 2017

Heterozygous germline mutations in NBS1 among Korean patients with high-risk breast cancer negative for BRCA1/2 mutation.

Kim H et al.

Familial Cancer, 2015

Candidate gene analysis of BRCA1/2 mutation-negative high-risk Russian breast cancer patients.

Sokolenko AP et al.

Cancer Letters, 2015

The spectrum of genetic mutations in breast cancer.

Sheikh A et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2015

High prevalence of GPRC5A germline mutations in BRCA1-mutant breast cancer patients.

Sokolenko AP et al.

International Journal of Cancer, 2014

XCIND as a genetic disease of X-irradiation hypersensitivity and cancer susceptibility.

Mizutani S et al.

International Journal of Hematology, 2013

High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study.

Chrzanowska KH et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

Fibroblast-based radiosensitivity assays as a clinically valuable tool for (severe) combined immunodeficiency syndromes.

Beyls E et al.

Mutation Research. Genetic Toxicology and Environmental Mutagenesis, 0

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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."