Varaico: Literature-Extracted Genetic Variants

Gene:NLRP12
Variant:p.G39V
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NLRP12

NM_144687.4:p.G39V

Associated Papers

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

Vatandoost N et al.

International Journal of Immunogenetics, 2025

Undifferentiated autoinflammatory disease in adults: a prospective study in 61 patients.

Miao J et al.

Orphanet Journal of Rare Diseases, 2025

NLRP12-associated autoinflammatory disease in Chinese adult patients: a single-centre study.

Miao J et al.

Rmd Open, 2023

Neurological manifestations of autoinflammatory diseases in Chinese adult patients.

Qin W et al.

Seminars in Arthritis and Rheumatism, 2020

Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants.

Tucker LB et al.

Pediatric Rheumatology Online Journal, 2019

Association of NLRP1 Coding Polymorphism with Lung Function and Serum IL-1β Concentration in Patients Diagnosed with Chronic Obstructive Pulmonary Disease (COPD).

Ozretić P et al.

Genes, 2019

Autoinflammation in pyoderma gangrenosum and its syndromic form (pyoderma gangrenosum, acne and suppurative hidradenitis).

Marzano AV et al.

The British Journal of Dermatology, 2017

Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.

Nakayama M et al.

Biochemistry and Biophysics Reports, 2017

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.

Rusmini M et al.

Annals of the Rheumatic Diseases, 2016

Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits.

Unknown Author

Nature Genetics, 2016

Somatic Variations in Cervical Cancers in Indian Patients.

Das P et al.

Plos One, 2016

27829003 (PubMed )
Supplement: pone.0165878.s001.xlsx › somatic_cosmic_hit.list

Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.

De Pieri C et al.

Pediatric Rheumatology Online Journal, 2015

Establishment and Characterization of 10 Human Pancreatic Cancer Cell Lines Including a HER2 Overexpressed Cell Line.

Kim SC et al.

Pancreas, 0

31688591 (PubMed )
Supplement: mpa-48-1285-s001.pdf
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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."