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Article

Exome sequencing uncovers phenotypic and genotypic heterogeneity in 198 Indian families evaluated for autoinflammatory disorders

2025-10-03

Abstract excerpt

<title>Abstract</title> <p>Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs. We describe the phenotypic and genotypic findi...

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Literature Corpus work
666f6a6d-008b-55ba-bf1e-91c7a8d82bdc
DOI
10.21203/rs.3.rs-7634112/v1
Open publication

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Exome sequencing uncovers phenotypic and genotypic heterogeneity in 198 Indian families evaluated for autoinflammatory disordersDOI 10.21203/rs.3.rs-7634112/v1
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