Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.L286V
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GLA

NM_000169.3:p.L286V

Associated Papers

Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.

Monda E et al.

Circulation. Genomic and Precision Medicine, 2023

38047356 (PubMed )
Supplement: circgenetics_circcvg-2023-004252-t_supp1.pdf

Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.

Gragnaniello V et al.

Biomolecules, 2021

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