Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.L2039F
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ABCA4

NM_000350.3:p.L2039F

Associated Papers

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

Allikmets R et al.

Nature Genetics, 1997

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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."