Varaico: Literature-Extracted Genetic Variants

Gene:S100A10
Variant:p.G41R
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S100A10

NM_002966.3:p.G41R

Associated Papers

A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXT.

Ruta L et al.

Journal of Inherited Metabolic Disease, 2025

Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: A gain or a loss?

Zhang H et al.

Journal of Neurochemistry, 2021

Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.

Coulter-Mackie MB et al.

Molecular Genetics and Metabolism, 0

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