Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.P40L
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GLA

NM_000169.3:p.P40L

Associated Papers

Proton Density of the Dorsal Root Ganglia in Classical Fabry Disease: MRI Correlates of Small Fibre Neuropathy.

Weiner S et al.

Biomedicines, 2025

40564187 (PubMed )
Supplement: biomedicines-13-01468-s001.zip › biomedicines-3648045-supplementary.pdf

MRI T2 Mapping of Dorsal Root Ganglia Reveals Increased T2 Relaxation Time in Classical Fabry Disease.

Weiner S et al.

Biomedicines, 2025

40149569 (PubMed )
Supplement: biomedicines-13-00592-s001.zip › Supplementary_Table_S1_T2_FD.pdf

Safety and Tolerability of a Shorter Agalsidase Beta Infusion Time in Patients with Classic or Later-Onset Fabry Disease.

Germain DP et al.

Biomedicines, 2024

Dorsal root ganglion magnetic resonance imaging biomarker correlations with pain in Fabry disease.

Schindehütte M et al.

Brain Communications, 2024

38751382 (PubMed )
Supplement: fcae155_supplementary_data.pdf

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 › Classic

The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.

Verrecchia E et al.

European Journal of Internal Medicine, 2016

Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.

Lenders M et al.

Orphanet Journal of Rare Diseases, 2016

Vascular endothelial growth factor (VEGF-a) in Fabry disease: association with cutaneous and systemic manifestations with vascular involvement.

Zampetti A et al.

Cytokine, 2013

Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

Saito S et al.

Plos One, 2013

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers.

Morrone A et al.

Journal of Medical Genetics, 2003

Early detection of Fabry cardiomyopathy by tissue Doppler imaging.

Pieroni M et al.

Circulation, 2003

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.

Altarescu GM et al.

Clinical Genetics, 2001

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.

Ashton-Prolla P et al.

Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 2000

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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."