Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.G50R
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GALC

NM_000153.4:p.G50R

Associated Papers

Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China.

Wang X et al.

Genome Medicine, 2025

40355959 (PubMed )
Supplement: 13073_2025_1483_MOESM1_ESM.pdf

Whole Exome Sequencing Study in Isolated South-Eastern Moravia (Czechia) Population Indicates Heterogenous Genetic Background for Parkinsonism Development.

Kolarikova K et al.

Frontiers in Neuroscience, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."