Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.I268T
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ABCA4

NM_000350.3:p.I268T

Associated Papers

Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.

Kellner U et al.

Ophthalmic Genetics, 0

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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."