Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.T41delFs
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GLA

NM_000169.3:p.T41delFs

Associated Papers

Aseptic meningitis and Fabry disease.

Montardi C et al.

Annals of Clinical and Translational Neurology, 2024

Parsing Fabry Disease Metabolic Plasticity Using Metabolomics.

Ducatez F et al.

Journal of Personalized Medicine, 2021

34575675 (PubMed )
Supplement: jpm-11-00898-s001.zip › Ducatez_et_al_supp_data_fabomics_20210731.xlsx › Table_S2

Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.

Mauhin W et al.

Plos One, 2020

A Human Stem Cell Model of Fabry Disease Implicates LIMP-2 Accumulation in Cardiomyocyte Pathology.

Birket MJ et al.

Stem Cell Reports, 2019

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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."