Varaico: Literature-Extracted Genetic Variants

Gene:HK2
Variant:p.E847K
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HK2

NM_000189.5:p.E847K

Associated Papers

High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by HK1 mutation.

Kubota D et al.

Ophthalmic Genetics, 2020

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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."