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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLA

Variant:p.L286_A288Fs

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GLA

NM_000169.3:p.L286_A288Fs

hg38:chrX:101398506 GCCCAG>CCCAA

Associated Papers

The Effect of Fabry Disease Therapy on Bone Mineral Density.

Aitken T et al.

Diseases (basel, Switzerland), 2024

38785757 (PubMed )

Supplement: diseases-12-00102-s001.zip › diseases-2921271-supplementary.pdf

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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."