Varaico: Literature-Extracted Genetic Variants

Gene:CD70
Variant:p.G54_W55Splc
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CD70

NM_001252.5:p.G54_W55Splc

Associated Papers

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.

Ghosh S et al.

Blood, 2020

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

Cifaldi C et al.

Frontiers in Immunology, 2019

31031743 (PubMed )
Supplement: Table_5.xlsx › Foglio1

CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever.

Caorsi R et al.

Frontiers in Immunology, 2017

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