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Phenotypic characterization of Familial Mediterranean Fever patients harboring variants of uncertain significance
BACKGROUND/AIM: Familial Mediterranean Fever (FMF) is the prototype of hereditary autoinflammatory disorders and caused by mutations on the MEFV gene located on the short arm of chromosome 16. Although some MEFV variants are clearly associated with disease phenotype, there are numerous variants with...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Scientific and Technological Research Council of Turkey
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8569734/ https://www.ncbi.nlm.nih.gov/pubmed/33726481 http://dx.doi.org/10.3906/sag-2011-273 |