Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.N272K
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CRAT

NM_000755.5:p.N272K

Associated Papers

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.

Eng CM et al.

Human Molecular Genetics, 1994

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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."