Varaico: Literature-Extracted Genetic Variants

Gene:CASP1
Variant:p.E311K
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CASP1

NM_001257118.3:p.E311K

Associated Papers

Clinical and Molecular Phenotypes of Low-Penetrance Variants of NLRP3: Diagnostic and Therapeutic Challenges.

Kuemmerle-Deschner JB et al.

Arthritis & Rheumatology (hoboken, N.j.), 2017

Muckle-Wells syndrome: clinical perspectives.

Tran TA

Open Access Rheumatology : Research and Reviews, 2017

A functional inflammasome activation assay differentiates patients with pathogenic NLRP3 mutations and symptomatic patients with low penetrance variants.

Rieber N et al.

Clinical Immunology (orlando, Fla.), 2015

Challenges in diagnosing Muckle-Wells syndrome: identifying two distinct phenotypes.

Kuemmerle-Deschner JB et al.

Arthritis Care & Research, 2014

Hearing loss in Muckle-Wells syndrome.

Kuemmerle-Deschner JB et al.

Arthritis and Rheumatism, 2013

Risk factors for severe Muckle-Wells syndrome.

Kümmerle-Deschner JB et al.

Arthritis and Rheumatism, 2010

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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."