Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.L415R
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GLA

NM_000169.3:p.L415R

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

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

Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases.

Nigro E et al.

Genes, 2023

High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.

Sawada T et al.

Diagnostics (basel, Switzerland), 2021

Fabry disease screening in high-risk populations in Japan: a nationwide study.

Yoshida S et al.

Orphanet Journal of Rare Diseases, 2020

32843101 (PubMed )
Supplement: 13023_2020_1494_MOESM5_ESM.xlsx › Sheet1

Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017.

Doheny D et al.

Journal of Medical Genetics, 2018

De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack.

Romani I et al.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2015

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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."