Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.P323delFs
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GLA

NM_000169.3:p.P323delFs

Associated Papers

Human in vitro models for Fabry disease: new paths for unravelling disease mechanisms and therapies.

Borisch C et al.

Journal of Translational Medicine, 2024

Modeling of Fabry disease nephropathy using patient derived human induced pluripotent stem cells and kidney organoid system.

Cui S et al.

Journal of Translational Medicine, 2023

Human-induced pluripotent stem cell lines (CMCi006-A and CMCi007-A) from a female and male patient with Fabry disease carrying the same frameshift deletion mutation.

Cui S et al.

Stem Cell Research, 2021

A Case of a 50-Year-Old Woman with Typical Fabry Disease Who Showed Serial Electrocardiographic and Echocardiographic Changes over a 17-Year Period.

Lee SN et al.

Case Reports in Cardiology, 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."