Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.F337S
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GLA

NM_000169.3:p.F337S

Associated Papers

Renal and multisystem effectiveness of 3.9 years of migalastat in a global real-world cohort: Results from the followME Fabry Pathfinders registry.

Hughes DA et al.

Journal of Inherited Metabolic Disease, 2025

39031114 (PubMed )
Supplement: JIMD-48-0-s001.docx

What Is the Role of Sensorineural Hearing Loss in Fabry Disease Screening?

Köroğlu EY et al.

Turkish Archives of Otorhinolaryngology, 2023

Long-Term Monitoring of Cardiac Involvement under Migalastat Treatment Using Magnetic Resonance Tomography in Fabry Disease.

Gatterer C et al.

Life (basel, Switzerland), 2023

Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease.

Mauhin W et al.

Journal of Clinical Medicine, 2022

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

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

Mauhin W et al.

Plos One, 2020

Peripheral nerve involvement in Fabry's disease: Which investigations? A case series and review of the literature.

Franques J et al.

Revue Neurologique, 2017

Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics.

Favalli V et al.

Journal of the American College of Cardiology, 2016

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