Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.R165fs
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CD40LG

NM_000074.3:p.R165fs

Associated Papers

Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China.

Fan H et al.

Bmc Pediatrics, 2022

CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics.

França TT et al.

Journal of Clinical Immunology, 2022

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

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