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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BCL11A

Variant:p.H188R

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BCL11A

NM_022893.4:p.H188R

hg38:chr2:60462349 T>C

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 )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."