Varaico: Literature-Extracted Genetic Variants

Gene:AK1
Variant:p.T86N
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AK1

NM_000476.3:p.T86N

Associated Papers

Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation.

Napolitano F et al.

Clinical Genetics, 2018

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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."