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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLA

Variant:p.M353del1

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GLA

NM_000169.3:p.M353del1

hg38:chrX:101398037 TATC>T

Associated Papers

Clinical features and enzyme replacement therapy in 10 children with Fabry disease.

Li Q et al.

Frontiers in Pediatrics, 2023

36816376 (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."