Varaico: Literature-Extracted Genetic Variants

Gene:RELA
Variant:p.P348insFs
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RELA

NM_021975.4:p.P348insFs

Associated Papers

A Case-Based Literature Review of RELA Associated Inflammatory Diseases.

Karaçayır N et al.

Journal of Clinical Immunology, 2026

Case report and literature review: clinical manifestations and treatment of human RelA deficiency.

Wang C et al.

Frontiers in Immunology, 2025

40134438 (PubMed )
Supplement: Table1.docx

Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant.

Lecerf K et al.

Rheumatology (oxford, England), 2022

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