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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLA

Variant:p.A288insFs

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GLA

NM_000169.3:p.A288insFs

hg38:chrX:101398504 T>TA

Associated Papers

Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.

Effraimidis G et al.

Plos One, 2022

36383556 (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."