Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.A348fs
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GLA

NM_000169.3:p.A348fs

Associated Papers

Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the G LA gene across 5 years: Longitudinal data from the Fabry MOPPet Study.

Laney DA et al.

Genetics in Medicine Open, 2024

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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."