ArticleHeliyon2025
T and NK cell functionality in a patient harboring heterozygous novel BCL11B p.Asp632fsAla∗91 and STX11 p.R129P mutations.
Article in Heliyon, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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11 authors.
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Abstract
BCL11B is a transcription factor essential for central nervous system development and T-cell differentiation that regulates numerous genes across various pathways. Heterozygous BCL11B defects can lead to a broad spectrum of phenotypes, including neurological disorders with or without immunological features. STX11 encodes a t-SNARE protein crucial for the final fusion of lytic granules with the plasma membrane of NK-cells and CD8
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