Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.S54P
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EMD

NM_000117.3:p.S54P

Associated Papers

Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF.

Lee KK et al.

Journal of Cell Science, 2001

The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane.

Fairley EA et al.

Journal of Cell Science, 1999

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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."