Varaico: Literature-Extracted Genetic Variants

Gene:HK1
Variant:p.R801W
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HK1

NM_000188.3:p.R801W

Associated Papers

Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder.

Ng BG et al.

Genetics in Medicine Open, 2025

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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."