Varaico: Literature-Extracted Genetic Variants

Gene:NLRP2
Variant:p.D363E
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NLRP2

NM_017852.5:p.D363E

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

Successful SCT for Nijmegen breakage syndrome.

Albert MH et al.

Bone Marrow Transplantation, 2010

The Fanconi anemia protein interaction network: casting a wide net.

Rego MA et al.

Mutation Research, 2009

NBS1 Heterozygosity and Cancer Risk.

di Masi A et al.

Current Genomics, 2008

Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability.

Seemanová E et al.

Journal of Medical Genetics, 2006

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

The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia.

Gennery AR et al.

Clinical Immunology (orlando, Fla.), 2004

Interaction of FANCD2 and NBS1 in the DNA damage response.

Nakanishi K et al.

Nature Cell Biology, 2002

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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."