Varaico: Literature-Extracted Genetic Variants

Gene:GTF2E2
Variant:p.A150P
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GTF2E2

NM_002095.6:p.A150P

Associated Papers

The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population.

Pascolini G et al.

Molecular Genetics & Genomic Medicine, 2024

TFIIE orchestrates the recruitment of the TFIIH kinase module at promoter before release during transcription.

Compe E et al.

Nature Communications, 2019

Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue.

Theil AF et al.

Human Molecular Genetics, 2017

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.

Kuschal C et al.

American Journal of Human Genetics, 2016

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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."