Varaico: Literature-Extracted Genetic Variants

Gene:HGD
Variant:p.I285I
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HGD

NM_000187.4:p.I285I

Associated Papers

Molecular Analysis of the HGD Gene in 9 Families With Alkaptonuric Ochronosis in Iran and Identification of Two Novel Variants.

Azami A et al.

Molecular Genetics & Genomic Medicine, 2025

Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria.

Al-sbou M

Rheumatology International, 2012

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

Allelic heterogeneity of alkaptonuria in Central Europe.

Müller CR et al.

European Journal of Human Genetics : Ejhg, 1999

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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."