Varaico: Literature-Extracted Genetic Variants

Gene:HGD
Variant:p.G123A
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HGD

NM_000187.4:p.G123A

Associated Papers

Screening and molecular characterization of lethal mutations of human homogentisate 1, 2 dioxigenase.

Sen Gupta PS et al.

Journal of Biomolecular Structure & Dynamics, 2021

Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.

Zatkova A et al.

Jimd Reports, 2012

An update on molecular genetics of Alkaptonuria (AKU).

Zatkova A

Journal of Inherited Metabolic Disease, 2011

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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."