Varaico: Literature-Extracted Genetic Variants

Gene:GAL
Variant:p.G75Splc
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GAL

NM_015973.5:p.G75Splc

Associated Papers

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

Gragnaniello V et al.

Biomolecules, 2021

Low frequency of Fabry disease in patients with common heart disease.

Schiffmann R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.

Tuttolomondo A et al.

Oncotarget, 2017

Frequency of Fabry disease in patients with small-fibre neuropathy of unknown aetiology: a pilot study.

Tanislav C et al.

European Journal of Neurology, 2011

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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."