Varaico: Literature-Extracted Genetic Variants

Gene:ELOVL4
Variant:p.N264_F265delFs
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ELOVL4

NM_022726.4:p.N264_F265delFs

Associated Papers

Corneal involvement in a case of autosomal dominant Stargardt-like macular dystrophy (STGD3) with ELOVL4 mutation.

Zhai Y et al.

Ophthalmic Genetics, 2022

Animal modelling for inherited central vision loss.

Kostic C et al.

The Journal of Pathology, 2016

Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4.

Grayson C et al.

The Journal of Biological Chemistry, 2005

Loss of ER retention and sequestration of the wild-type ELOVL4 by Stargardt disease dominant negative mutants.

Karan G et al.

Molecular Vision, 2005

Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes.

Vasireddy V et al.

Molecular Vision, 2005

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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."