Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.G1975D
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ABCA4

NM_000350.3:p.G1975D

Associated Papers

The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration.

Molday RS et al.

Biochimica Et Biophysica Acta, 2009

Mechanistic studies of ABCR, the ABC transporter in photoreceptor outer segments responsible for autosomal recessive Stargardt disease.

Sun H et al.

Journal of Bioenergetics and Biomembranes, 2001

Biochemical defects in ABCR protein variants associated with human retinopathies.

Sun H et al.

Nature Genetics, 2000

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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."