Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.I239fs
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GLA

NM_000169.3:p.I239fs

Associated Papers

A Classical Phenotype of Fabry Disease with Novel Mutation Found by Kidney Biopsy, A Case Report.

Matsumoto K et al.

Iranian Journal of Kidney Diseases, 2023

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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."