Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.Y222*
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GLA

NM_000169.3:p.Y222*

Associated Papers

Unveiling the characteristics of lobar-predominant cerebral microbleeds in Fabry disease.

Hsieh PF et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2025

Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological Features.

Ranieri M et al.

Current Treatment Options in Neurology, 2016

Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.

Yang CC et al.

Clinical Genetics, 2003

The heart in Fabry's disease.

Sheppard MN

Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0

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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."