Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.A352_M353ins0
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GLA

NM_000169.3:p.A352_M353ins0

Associated Papers

Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease.

Nowak A et al.

Journal of Medical Genetics, 2022

33495303 (PubMed )
Supplement: jmedgenet-2020-107338supp001.pdf

Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy.

Franzen D et al.

Bmj Open Respiratory Research, 2018

29713479 (PubMed )
Supplement: bmjresp-2018-000277supp001.pdf
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