Varaico: Literature-Extracted Genetic Variants

Gene:NLRP2
Variant:p.R248insFs
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NLRP2

NM_017852.5:p.R248insFs

Associated Papers

NBS1 Heterozygosity and Cancer Risk.

di Masi A et al.

Current Genomics, 2008

Mild Nijmegen breakage syndrome phenotype due to alternative splicing.

Varon R et al.

Human Molecular 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

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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."