Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.K1081K
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ABCA4

NM_000350.3:p.K1081K

Associated Papers

A Comprehensive Analysis and Splicing Characterization of Naturally Occurring Synonymous Variants in the ATP7B Gene.

Zhou X et al.

Frontiers in Genetics, 2020

Pattern dystrophy in a female carrier of RP2 mutation.

Misky D et al.

Ophthalmic Genetics, 2016

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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."