Varaico: Literature-Extracted Genetic Variants

Gene:NLRP12
Variant:p.A629D
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NLRP12

NM_144687.4:p.A629D

Associated Papers

Novel Variant in the NLRP12 Gene: Insights From a Case Report and Systematic Review.

Bouramtane A et al.

International Journal of Immunogenetics, 2025

41261519 (PubMed )
Supplement: supplement_1.xlsx › Feuil1

Association Between Pathogenic Variants in NLRP12 and Autoinflammatory Disease: A Comprehensive Systematic Review.

Vatandoost N et al.

International Journal of Immunogenetics, 2025

NLRP12 gene mutations and auto-inflammatory diseases: ever-changing evidence.

Del Porto F et al.

Rheumatology (oxford, England), 2020

Recent advances in elucidating the genetics of common variable immunodeficiency.

Aggarwal V et al.

Genes & Diseases, 2020

Generalized Cytokine Increase in the Setting of a Multisystem Clinical Disorder and Carcinoid Syndrome Associated with a Novel NLRP12 Variant.

Jacob N et al.

Digestive Diseases and Sciences, 2019

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

van Schouwenburg PA et al.

Clinical Immunology (orlando, Fla.), 2015

26122175 (PubMed )
Supplement: NIHMS64345-supplement-Supplementary_tables.xlsx › Table_S1

Novel NLRP12 mutations associated with intestinal amyloidosis in a patient diagnosed with common variable immunodeficiency.

Borte S et al.

Clinical Immunology (orlando, Fla.), 2014

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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."