Varaico: Literature-Extracted Genetic Variants

Gene:EFEMP1
Variant:p.R345P
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EFEMP1

NM_001039348.3:p.R345P

Associated Papers

Translational attenuation differentially alters the fate of disease-associated fibulin proteins.

Hulleman JD et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2012

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."