Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.A253insFs
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MEFV

NM_000243.3:p.A253insFs

Associated Papers

TYK2 Deficiency Presenting as Refractory Disseminated BCG/Tuberculosis Infection in a Kazakh Child: A Case Report with Genetic Confirmation.

Sikhayeva N et al.

Genes, 2025

Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.

Kablan A et al.

Clinical Genetics, 2025

Pediatric Immunoglobulin A Vasculitis: Impact of Mediterranean Fever Gene Variants on Clinical Course and Inflammatory Markers.

Tunce E et al.

Turkish Archives of Pediatrics, 2025

The Promise of Exome Sequencing for the Differential Diagnosis of Late-Onset End-Stage Renal Disease in Turkish Cypriots.

Kazan HH et al.

Cureus, 2025

Familial Mediterranean fever: breaking all the (genetic) rules.

Stella A et al.

Rheumatology (oxford, England), 2019

A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever.

Dogan H et al.

Bmc Medical Genetics, 2014

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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."