Varaico: Literature-Extracted Genetic Variants

Gene:HGD
Variant:p.R145*
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HGD

NM_000187.4:p.R145*

Associated Papers

Functional Characterization of HGD Gene Variants by Minigene Splicing Assay.

Nekrasov A et al.

International Journal of Molecular Sciences, 2025

41226673 (PubMed )
Supplement: ijms-26-10639-s001.zip › Supplementary › Supplementary_S1__Primers_table_.xlsx › ____1

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

Vilboux T et al.

Human Mutation, 2009

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