Varaico: Literature-Extracted Genetic Variants

Gene:TAF1C
Variant:p.R405C
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TAF1C

NM_005679.4:p.R405C

Associated Papers

Mouse variants in Taf1c result in reduced survival to birth.

Watts JL et al.

Developmental Biology, 2025

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

Ahmad SR et al.

Clinical Genetics, 2025

Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype.

Knuutinen O et al.

Clinical Genetics, 2020

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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."