Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.Q148*
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CTLA4

NM_005214.5:p.Q148*

Associated Papers

Targeted RNAseq Improves Clinical Diagnosis of Very Early-Onset Pediatric Immune Dysregulation.

Berger K et al.

Journal of Personalized Medicine, 2022

T-follicular helper cell expansion and chronic T-cell activation are characteristic immune anomalies in Evans syndrome.

Kumar D et al.

Blood, 2022

34424963 (PubMed )
Supplement: 10.1182-2021012924_bloodbld2021012924-suppl1.pdf

Primary immune regulatory disorders for the pediatric hematologist and oncologist: A case-based review.

Chandrakasan S et al.

Pediatric Blood & Cancer, 2019

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