Varaico: Literature-Extracted Genetic Variants

Gene:TAF8
Variant:p.M260_E261Splc
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TAF8

NM_138572.3:p.M260_E261Splc

Associated Papers

Novel fetal phenotype of TAF8 deficiency.

Nadav G et al.

European Journal of Human Genetics : Ejhg, 2025

Mutations in TAF8 cause a neurodegenerative disorder.

Wong KM et al.

Brain : a Journal of Neurology, 2022

Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription.

El-Saafin F et al.

Human Molecular Genetics, 2018

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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."