Varaico: Literature-Extracted Genetic Variants

Gene:EFEMP1
Variant:p.R345G
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EFEMP1

NM_001039348.3:p.R345G

Associated Papers

Compromised mutant EFEMP1 secretion associated with macular dystrophy remedied by proteostasis network alteration.

Hulleman JD et al.

Molecular Biology of the Cell, 2011

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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."