Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.E79_K82delFs
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GLA

NM_000169.3:p.E79_K82delFs

Associated Papers

Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.

Gragnaniello V et al.

International Journal of Neonatal Screening, 2023

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.

Burlina AB et al.

Journal of Inherited Metabolic Disease, 2018

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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."