Varaico: Literature-Extracted Genetic Variants

Gene:CBLB
Variant:p.R496*
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CBLB

NM_001321786.1:p.R496*

Associated Papers

Immune dysregulation caused by homozygous mutations in CBLB.

Janssen E et al.

The Journal of Clinical Investigation, 2022

Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.

Avramović V et al.

Human Genomics, 2021

34906245 (PubMed )
Supplement: 40246_2021_371_MOESM1_ESM.xlsx › S5
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