Varaico: Literature-Extracted Genetic Variants

Gene:HGD
Variant:p.C120F
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HGD

NM_000187.4:p.C120F

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

Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations.

Usher JL et al.

Jimd Reports, 2015

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

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