Varaico: Literature-Extracted Genetic Variants

Gene:NLRP2
Variant:p.S4L
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NLRP2

NM_017852.5:p.S4L

Associated Papers

Genetic Variants in Early-Onset Inflammatory Bowel Disease: Monogenic Causes and Clinical Implications.

Demirtas Guner D et al.

Children (basel, Switzerland), 2025

Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Glentis S et al.

Frontiers in Genetics, 2019

31681433 (PubMed )
Supplement: DataSheet_1.xlsx › Supplemetary_Table_13

Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

Ostrowski J et al.

Scientific Reports, 2016

28008999 (PubMed )
Supplement: srep39831-s2.xls › _Table_S6

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.

Di Gioia SA et al.

Scientific Reports, 2015

No evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertility.

Aghajanova L et al.

Human Reproduction (oxford, England), 2015

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-9.xlsx › S_Data_8

Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer.

Landwehr R et al.

Breast Cancer Research and Treatment, 2011

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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."