Varaico: Literature-Extracted Genetic Variants

Gene:CD8B
Variant:p.S48I
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CD8B

NM_004931.5:p.S48I

Associated Papers

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

Peron A et al.

European Journal of Human Genetics : Ejhg, 2025

39448799 (PubMed )
Supplement: 41431_2024_1701_MOESM2_ESM.xlsx › Supplementary_Table_1
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