Varaico: Literature-Extracted Genetic Variants

Gene:NLRP2
Variant:p.A381delFs
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NLRP2

NM_017852.5:p.A381delFs

Associated Papers

Do founder mutations characteristic of some cancer sites also predispose to pancreatic cancer?

Lener MR et al.

International Journal of Cancer, 2016

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

Clinical characteristics of breast cancer in patients with an NBS1 mutation.

Huzarski T et al.

Breast Cancer Research and Treatment, 2013

An inherited NBN mutation is associated with poor prognosis prostate cancer.

Cybulski C et al.

British Journal of Cancer, 2013

Clinical radiation sensitivity with DNA repair disorders: an overview.

Pollard JM et al.

International Journal of Radiation Oncology, Biology, Physics, 2009

Mutations in the Nijmegen breakage syndrome gene in medulloblastomas.

Huang J et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2008

NBS1 Heterozygosity and Cancer Risk.

di Masi A et al.

Current Genomics, 2008

Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers.

Di Masi A et al.

Genetic Testing, 2006

NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia.

Buslov KG et al.

International Journal of Cancer, 2005

Multiplex single-tube screening for mutations in the Nijmegen Breakage Syndrome (NBS1) gene in Hodgkin's and non-Hodgkin's lymphoma patients of Slavic origin.

Soucek P et al.

European Journal of Human Genetics : Ejhg, 2003

Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability.

Tauchi H et al.

Oncogene, 2002

Retroviral expression of the NBS1 gene in cultured Nijmegen breakage syndrome cells restores normal radiation sensitivity and nuclear focus formation.

Cerosaletti KM et al.

Mutagenesis, 2000

Nijmegen breakage syndrome: consequences of defective DNA double strand break repair.

Digweed M et al.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 1999

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.

Varon R et al.

Cell, 1998

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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."