Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.K213_P214Splc
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GLA

NM_000169.3:p.K213_P214Splc

Associated Papers

All reported non-canonical splice site variants in GLA cause aberrant splicing.

Okada E et al.

Clinical and Experimental Nephrology, 2023

High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry.

Lee SH et al.

Molecular Genetics and Metabolism, 2014

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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."