Varaico: Literature-Extracted Genetic Variants

Gene:HGD
Variant:p.G372_P373del1
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HGD

NM_000187.4:p.G372_P373del1

Associated Papers

Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.

Ascher DB et al.

European Journal of Human Genetics : Ejhg, 2019

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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."