Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.L417P
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GLA

NM_000169.3:p.L417P

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

Population Frequency of Undiagnosed Fabry Disease in the General Population.

Kermond-Marino A et al.

Kidney International Reports, 2023

37441486 (PubMed )
Supplement: mmc1.pdf

X-chromosomal inactivation patterns in women with Fabry disease.

Wagenhäuser L et al.

Molecular Genetics & Genomic Medicine, 2022

Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy.

Tsukimura T et al.

Molecular Genetics and Metabolism Reports, 2020

Stratification of Fabry mutations in clinical practice: a closer look at α-galactosidase A-3D structure.

Rickert V et al.

Journal of Internal Medicine, 2020

Fabry disease in a Japanese population-molecular and biochemical characteristics.

Sakuraba H et al.

Molecular Genetics and Metabolism Reports, 2018

[Molecular genetics of Fabry disease].

Sakuraba H

Seikagaku. the Journal of Japanese Biochemical Society, 1989

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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."