Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.V137Splc
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CD40LG

NM_000074.3:p.V137Splc

Associated Papers

HSCT using carrier donors for CD40L deficiency results in excellent immune function and higher CD40L expression in cTfh.

Chandrakasan S et al.

Blood Advances, 2022

35443026 (PubMed )
Supplement: advancesADV2021006905-suppl1.pdf

Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience.

Lega S et al.

Inflammatory Bowel Diseases, 2020

Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.

Cifaldi C et al.

Frontiers in Immunology, 2019

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