Varaico: Literature-Extracted Genetic Variants

Gene:HGD
Variant:p.D153fs
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HGD

NM_000187.4:p.D153fs

Associated Papers

Clinical presentation of 13 children with alkaptonuria.

Kujawa MJ et al.

Journal of Inherited Metabolic Disease, 2023

Alkaptonuria in Russia.

Soltysova A et al.

European Journal of Human Genetics : Ejhg, 2022

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.

Nemethova M et al.

European Journal of Human Genetics : Ejhg, 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."