Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.V134G
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GALNS

NM_000512.5:p.V134G

Associated Papers

Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex.

Lukong KE et al.

Human Molecular Genetics, 2000

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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."