Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.I219L
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GLA

NM_000169.3:p.I219L

Associated Papers

Parsing Fabry Disease Metabolic Plasticity Using Metabolomics.

Ducatez F et al.

Journal of Personalized Medicine, 2021

34575675 (PubMed )
Supplement: jpm-11-00898-s001.zip › Ducatez_et_al_supp_data_fabomics_20210731.xlsx › Table_S2

AA amyloidosis associated with Fabry disease.

Terré A et al.

International Journal of Clinical Practice, 2020

Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.

Mauhin W et al.

Plos One, 2020

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