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Autoinflammatory Diseases Underdiagnosed: A Genomic View

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Summary

A genome-first analysis reveals that pathogenic variants linked to systemic autoinflammatory diseases are rarely diagnosed; many participants who carry the variants show clinically relevant features.

Description from Medscape.

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  1. Medscape Center Factuality: Mostly factual US
    Autoinflammatory Diseases Underdiagnosed: A Genomic View

    A genome-first analysis reveals that pathogenic variants linked to systemic autoinflammatory diseases are rarely diagnosed; many participants who carry the variants show clinically relevant features.