Varaico: Literature-Extracted Genetic Variants

Gene:BCL11B
Variant:p.G656fs
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BCL11B

NM_138576.4:p.G656fs

Associated Papers

BCL11B-related disease: a single phenotypic entity?

Vedovato-Dos-Santos JH et al.

European Journal of Human Genetics : Ejhg, 2025

40033098 (PubMed )
Supplement: 41431_2025_1824_MOESM3_ESM.xlsx › Sheet1

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.

Sabbagh Q et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

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