Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.E627G
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MEFV

NM_000243.3:p.E627G

Associated Papers

Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Gaggiano C et al.

Mediators of Inflammation, 2019

The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy.

Vitale A et al.

Internal and Emergency Medicine, 2017

Impaired cytokine responses in patients with cryopyrin-associated periodic syndrome (CAPS).

Haverkamp MH et al.

Clinical and Experimental Immunology, 2014

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

Kuemmerle-Deschner JB et al.

Arthritis Care & Research, 2014

Working the endless puzzle of hereditary autoinflammatory disorders.

Caso F et al.

Modern Rheumatology, 2014

Structural analysis of leucine-rich-repeat variants in proteins associated with human diseases.

Matsushima N et al.

Cellular and Molecular Life Sciences : Cmls, 2005

De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.

Aksentijevich I et al.

Arthritis and Rheumatism, 2002

The autoinflammatory syndromes.

McDermott MF et al.

Current Opinion in Allergy and Clinical Immunology, 2002

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.

Hoffman HM et al.

Nature Genetics, 2001

Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes.

Cantarini L et al.

International Journal of Immunopathology and Pharmacology, 0

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