Varaico: Literature-Extracted Genetic Variants

Gene:ELOVL4
Variant:p.K310R
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ELOVL4

NM_022726.4:p.K310R

Associated Papers

Mutant ELOVL4 that causes autosomal dominant stargardt-3 macular dystrophy is misrouted to rod outer segment disks.

Agbaga MP et al.

Investigative Ophthalmology & Visual Science, 2014

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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."