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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TAF1C

Variant:p.S589L

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TAF1C

NM_005679.4:p.S589L

hg38:chr16:84179785 G>A

Associated Papers

A Novel TAF1C Missense Variant Causes Neurodevelopmental Regression via Disrupted Nucleolar Localization and Nucleoplasmic Aggregation.

Ahmad SR et al.

Clinical Genetics, 2025

40371665 (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."