Varaico: Literature-Extracted Genetic Variants

Gene:EFEMP1
Variant:p.D334G
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EFEMP1

NM_001039348.3:p.D334G

Associated Papers

Genetic ablation of N-linked glycosylation reveals two key folding pathways for R345W fibulin-3, a secreted protein associated with retinal degeneration.

Hulleman JD et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2015

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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."