Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.T246I
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MEFV

NM_000243.3:p.T246I

Associated Papers

Comprehensive analysis of mutations in the MEFV gene reveal that the location and not the substitution type determines symptom severity in FMF.

Moradian MM et al.

Molecular Genetics & Genomic Medicine, 2017

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Carmi S et al.

Nature Communications, 2014

25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants
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