Varaico: Literature-Extracted Genetic Variants

Gene:HGD
Variant:p.W322R
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HGD

NM_000187.4:p.W322R

Associated Papers

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

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