Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.G271A
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GLA

NM_000169.3:p.G271A

Associated Papers

Increased Serum Interleukin-6 and Tumor Necrosis Factor Alpha Levels in Fabry Disease: Correlation with Disease Burden.

Rosa Neto NS et al.

Clinics (sao Paulo, Brazil), 2021

Depression, sleep disturbances, pain, disability and quality of LIFE in Brazilian Fabry disease patients.

Rosa Neto NS et al.

Molecular Genetics and Metabolism Reports, 2020

Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

Lukas J et al.

International Journal of Molecular Sciences, 2020

Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients.

Rosa Neto NS et al.

Advances in Rheumatology (london, England), 2020

Simple and efficient screening of patients with Fabry disease with high resolution melting.

Pasqualim G et al.

Clinical Biochemistry, 2018

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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."