Varaico: Literature-Extracted Genetic Variants

Gene:NLRP12
Variant:p.P286L
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NLRP12

NM_144687.4:p.P286L

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

Systematic phenotype and genotype characterization of Moebius syndrome.

Webb BD et al.

Genetics in Medicine Open, 2025

40662098 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_8

NLRP12-associated autoinflammatory disease: A novel causal mutation and bioinformatics analyses.

Li Z et al.

Clinical Immunology (orlando, Fla.), 2024

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).

Pinto E Vairo F et al.

Journal of Translational Medicine, 2023

37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3

Contrasting role of NLRP12 in autoinflammation: evidence from a case report and mouse models.

Lévy D et al.

Rmd Open, 2021

Acquired Cold Urticaria vs. Autoinflammatory Diseases, Genetic and Clinical Profile and Differential Diagnosis: Study of a Cohort of Patients in a Tertiary Reference Centre.

Deza G et al.

Acta Dermato-venereologica, 2019

[Relationship between the HBV core gene mutation and the cellular immunity in host].

Li J et al.

Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 2003

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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."