Varaico: Literature-Extracted Genetic Variants

Gene:CASC3
Variant:p.L462R
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CASC3

NM_007359.5:p.L462R

Associated Papers

ZMPSTE24 missense mutations that cause progeroid diseases decrease prelamin A cleavage activity and/or protein stability.

Spear ED et al.

Disease Models & Mechanisms, 2018

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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."