Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H4
Variant:p.E310K
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GTF2H4

NM_001517.5:p.E310K

Associated Papers

Systematic mutagenesis of TFIIH subunit p52/Tfb2 identifies residues required for XPB/Ssl2 subunit function and genetic interactions with TFB6.

Bassett J et al.

The Journal of Biological Chemistry, 2022

DNA repair and transcriptional deficiencies caused by mutations in the Drosophila p52 subunit of TFIIH generate developmental defects and chromosome fragility.

Fregoso M et al.

Molecular and Cellular Biology, 2007

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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."