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variant

E148Q

· 4 retained evidence mentions

Supporting evidence

TypeEntitySource evidenceConfidenceExtractor
variantE148Q“The most frequently detected genetic mutation was M694I, followed by M694V, E148Q, M680I, and V726A.”0.82literature_variant_regex_v2
variantE148Q“Patients with E148Q, V726A and R761H mutations may have milder FMF symptoms.”0.82literature_variant_regex_v2
variantE148Q“By using polymerase chain reaction and Hybridization-ELISA methods, 5 mutations (M694V, M694I, V726A, M680I and E148Q) have been studied between December 2002 and January 2005.”0.82literature_variant_regex_v2
variantE148Q“The mutation E148Q was the most common among the healthy adult cohort, but was not present in affected individuals.”0.82literature_variant_regex_v2