Varaico: Literature-Extracted Genetic Variants

Gene:HGD
Variant:p.D153G
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HGD

NM_000187.4:p.D153G

Associated Papers

Alkaptonuria in Russia.

Soltysova A et al.

European Journal of Human Genetics : Ejhg, 2022

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

Sen Gupta PS et al.

Journal of Biomolecular Structure & Dynamics, 2021

Single Amino Acid Substitution in Homogentisate Dioxygenase Affects Melanin Production in Bacillus thuringiensis.

Yang W et al.

Frontiers in Microbiology, 2018

An update on molecular genetics of Alkaptonuria (AKU).

Zatkova A

Journal of Inherited Metabolic Disease, 2011

Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

Vilboux T et al.

Human Mutation, 2009

Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families.

Ladjouze-Rezig A et al.

Joint Bone Spine, 2006

Structural and functional analysis of mutations in alkaptonuria.

Rodríguez JM et al.

Human Molecular Genetics, 2000

Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.

Beltrán-Valero de Bernabé D et al.

American Journal of Human Genetics, 1998

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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."