Varaico: Literature-Extracted Genetic Variants

Gene:HGD
Variant:p.V157F
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HGD

NM_000187.4:p.V157F

Associated Papers

Functional Characterization of HGD Gene Variants by Minigene Splicing Assay.

Nekrasov A et al.

International Journal of Molecular Sciences, 2025

Gene expression & biochemical analysis in alkaptonuria caused by a founder pathogenic variant across different age groups from India.

Abraham SSC et al.

The Indian Journal of Medical Research, 2024

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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."