Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.K374_G375del1
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GLA

NM_000169.3:p.K374_G375del1

Associated Papers

Zebra bodies recognition by artificial intelligence (ZEBRA): a computational tool for Fabry nephropathy.

Cazzaniga G et al.

Scientific Reports, 2026

Fabry disease phenotyping in women from the complete Romanian cohort - time for early diagnostic awareness.

Mursă A et al.

Romanian Journal of Internal Medicine = Revue Roumaine De Medecine Interne, 2024

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

Savostyanov K et al.

Genes, 2023

The Impact of Kidney Biopsy for Fabry Nephropathy Evaluation on Patients' Management and Long-Term Outcomes: Experience of a Single Center.

Rusu EE et al.

Biomedicines, 2022

Demographic and Clinical Characteristics of the Full 2015-2018 Cohort of Romanian Fabry Disease Patients.

Militaru S et al.

Current Health Sciences Journal, 0

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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."