Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.S242G
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MEFV

NM_000243.3:p.S242G

Associated Papers

New Diseases Linked to MEFV Variants or Pyrinopathies.

Mertz P et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2025

A dominant pathogenic MEFV mutation causes atypical pyrin-associated periodic syndromes.

Wang Q et al.

Jci Insight, 2023

37676738 (PubMed )
Supplement: jciinsight-8-172975-s130.pdf

Gain-of-function of MEFV Mutation Causes Very Early Onset Inflammatory Bowel Disease.

Wang Q et al.

Journal of Clinical Immunology, 2023

Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review.

Li Y et al.

Pediatric Rheumatology Online Journal, 2022

Homozygous MEFV Gene Variant and Pyrin-Associated Autoinflammation With Neutrophilic Dermatosis: A Family With a Novel Autosomal Recessive Mode of Inheritance.

Vahidnezhad H et al.

Jama Dermatology, 2021

Phenotypic analysis of pyrin-associated autoinflammation with neutrophilic dermatosis patients during treatment.

Van Nieuwenhove E et al.

Rheumatology (oxford, England), 2021

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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."