Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.C94Y
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BCHE

NM_000055.4:p.C94Y

Associated Papers

Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.

Eng CM et al.

Molecular Medicine (cambridge, Mass.), 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."