Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.L110L
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MEFV

NM_000243.3:p.L110L

Associated Papers

Familial Mediterranean Fever Intertwined With a Diagnosis of Crohn's Disease: A Case Report.

Ferreira C et al.

Cureus, 2025

Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Hildebrandt MR et al.

Stem Cell Reports, 2019

31813827 (PubMed )
Supplement: mmc3.xlsx › SNVs

New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).

Van Gijn ME et al.

Journal of Medical Genetics, 2018

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

van Schouwenburg PA et al.

Clinical Immunology (orlando, Fla.), 2015

26122175 (PubMed )
Supplement: NIHMS64345-supplement-Supplementary_tables.xlsx › Table_S5

Novel therapeutics for the treatment of familial Mediterranean fever: from colchicine to biologics.

Grattagliano I et al.

Clinical Pharmacology and Therapeutics, 2014

Characterization of new mutations in the 5'-flanking region of the familial Mediterranean fever gene.

Notarnicola C et al.

Genes and Immunity, 2009

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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."