New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)

Marielle E Van Gijn; Isabella Ceccherini; Yael Shinar; Ellen C Carbo; Mariska Slofstra; Juan I Arostegui; Guillaume Sarrabay; Dorota Rowczenio; Ebun Omoyımnı; Banu Balci-Peynircioglu; Hal M Hoffman; Florian Milhavet; Morris A Swertz; Isabelle Touitou

doi:10.1136/jmedgenet-2017-105216

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Original article

New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)

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