Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.N5_E7del3
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GLA

NM_000169.3:p.N5_E7del3

Associated Papers

Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.

Davies JP et al.

European Journal of Human Genetics : Ejhg, 1996

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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."