Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.Q279*
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GLA

NM_000169.3:p.Q279*

Associated Papers

Fabry Disease Nephropathy: Histological Changes With Nonclassical Mutations and Genetic Variants of Unknown Significance.

Santostefano M et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2023

Fabry disease due to D313Y and novel GLA mutations.

Koulousios K et al.

Bmj Open, 2017

[3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency as a cause of severe neurological damage].

Dodelson de Kremer R et al.

Medicina, 1992

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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."