Varaico: Literature-Extracted Genetic Variants

Gene:RFXANK
Variant:p.L128delFs
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RFXANK

NM_003721.4:p.L128delFs

Associated Papers

A novel pathogenic RFXANK variant causing MHC class II deficiency in two unrelated patients from Mexico.

Nuñez-Nuñez ME et al.

Human Immunology, 2026

Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.

Quinn J et al.

Frontiers in Immunology, 2022

35757720 (PubMed )
Supplement: DataSheet_1.pdf
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