Varaico: Literature-Extracted Genetic Variants

Gene:HGD
Variant:p.R225L
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HGD

NM_000187.4:p.R225L

Associated Papers

Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.

Kablan A et al.

Clinical Genetics, 2025

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

Natural history of alkaptonuria.

Phornphutkul C et al.

The New England Journal of Medicine, 2002

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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."