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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLA

Variant:p.Y123_V124Splc

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GLA

NM_000169.3:p.Y123_V124Splc

hg38:chrX:101401810 C>T

Associated Papers

Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.

Guo W et al.

Journal of Advanced Research, 2026

40120803 (PubMed )

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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."