Varaico: Literature-Extracted Genetic Variants

Gene:YTHDC1
Variant:p.S54F
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YTHDC1

NM_001031732.4:p.S54F

Associated Papers

Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy.

Haraguchi T et al.

European Journal of Biochemistry, 2004

The nuclear envelope LEM-domain protein emerin.

Berk JM et al.

Nucleus (austin, Tex.), 0

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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."