Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.A66V
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MEFV

NM_000243.3:p.A66V

Associated Papers

NLRP1 Inflammasome Activation in Keratinocytes: Increasing Evidence of Important Roles in Inflammatory Skin Diseases and Immunity.

Fenini G et al.

The Journal of Investigative Dermatology, 2022

Function and mechanism of the pyrin inflammasome.

Heilig R et al.

European Journal of Immunology, 2018

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Cooper DN et al.

Human Genetics, 2013

Mutational signatures of de-differentiation in functional non-coding regions of melanoma genomes.

Parker SC et al.

Plos Genetics, 2012

22912592 (PubMed )
Supplement: pgen.1002871.s018.xls › tissue

NLRP1-associated autoinflammatory disease with epithelial dyskeratosis.

Lemus-Arteaga K et al.

Pediatric Dermatology, 0

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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."