Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.L54V
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GLA

NM_000169.3:p.L54V

Associated Papers

Fabry disease and the skin: data from FOS, the Fabry outcome survey.

Orteu CH et al.

The British Journal of Dermatology, 2007

Molecular bases of type II protein S deficiency: the I203-D204 deletion in the EGF4 domain alters GLA domain function.

Baroni M et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

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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."