Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.L36F
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GLA

NM_000169.3:p.L36F

Associated Papers

Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease.

Cybulla M et al.

Journal of Clinical Medicine, 2022

36013057 (PubMed )
Supplement: jcm-11-04810-s001.zip › jcm-1818880-supplementary.pdf

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.

Benjamin ER et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27657681 (PubMed )
Supplement: gim2016122x1.zip › Supplemental_Appendix_2_12152015.xlsx › Unknown

New mutations in the GLA gene in Brazilian families with Fabry disease.

Turaça LT et al.

Journal of Human Genetics, 2012

Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy.

Biancini GB et al.

Biochimica Et Biophysica Acta, 2012

Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: a Brazilian experience.

Thofehrn S et al.

Renal Failure, 2009

Genomic analysis of Brazilian patients with Fabry disease.

Pereira FS et al.

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2007

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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."