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MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database |
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| Authors: | Lamia Alsubaie Randa Alkhalaf Taghrid Aloraini Manal Amoudi Abdulrahman Swaid Fuad Al Mutairi Majid Alfadhel Wafaa Eyaid Wafaa Sewairi Ahmed Alfares |
| Affiliation: | 1. Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia;2. Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia;3. Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia;4. King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia Division of Rheumatology, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia |
| Abstract: | |
| Keywords: | auto-inflammatory disease Familial Mediterranean Fever fever Mediterranean fever MEFV |