Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.K493K
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GLB1

NM_000404.4:p.K493K

Associated Papers

A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient.

Mosna G et al.

Human Genetics, 1992

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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."