Varaico: Literature-Extracted Genetic Variants

Gene:LRBA
Variant:p.S1000insFs
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LRBA

NM_001364905.1:p.S1000insFs

Associated Papers

Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease.

Fabozzi F et al.

Frontiers in Immunology, 2022

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