Varaico: Literature-Extracted Genetic Variants

Gene:HGD
Variant:p.M396_A397Splc
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HGD

NM_000187.4:p.M396_A397Splc

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

Alkaptonuria in Russia.

Soltysova A et al.

European Journal of Human Genetics : Ejhg, 2022

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