Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.C63R
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GLA

NM_000169.3:p.C63R

Associated Papers

Exosome-Based Proteomic Profiling for Biomarker Discovery in Pediatric Fabry Disease: Insights into Early Diagnosis Monitoring.

Lu Z et al.

Biomedicines, 2025

Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.

Savostyanov K et al.

Genes, 2023

Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.

Thomas CP et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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
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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."