Varaico: Literature-Extracted Genetic Variants

Gene:PHF5A
Variant:p.Y36F
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PHF5A

NM_032758.4:p.Y36F

Associated Papers

The cryo-EM structure of the SF3b spliceosome complex bound to a splicing modulator reveals a pre-mRNA substrate competitive mechanism of action.

Finci LI et al.

Genes & Development, 2018

Splicing modulators act at the branch point adenosine binding pocket defined by the PHF5A-SF3b complex.

Teng T et al.

Nature Communications, 2017

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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."