Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.I26_P27delFs
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GLA

NM_000169.3:p.I26_P27delFs

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

Gragnaniello V et al.

Biomolecules, 2021

Systematic DNA Study for Fabry Disease in the End Stage Renal Disease Patients from a Southern Italy Area.

Zizzo C et al.

Kidney & Blood Pressure Research, 2018

Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.

Gervas-Arruga J et al.

Bmc Genetics, 2015

A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene.

Tuttolomondo A et al.

Clinical Biochemistry, 2015

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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."