Varaico: Literature-Extracted Genetic Variants

Gene:GAL
Variant:p.R52K
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GAL

NM_015973.5:p.R52K

Associated Papers

Functional studies of new GLA gene mutations leading to conformational Fabry disease.

Filoni C et al.

Biochimica Et Biophysica Acta, 2010

Novel regulation of the helix-loop-helix protein Id1 by S5a, a subunit of the 26 S proteasome.

Anand G et al.

The Journal of Biological Chemistry, 1997

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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."