<i>In vitro</i> characterization of cells derived from a patient with the <i>GLA</i> variant c.376A>G (p.S126G) highlights a non-pathogenic role in Fabry disease.

Authors:
Breyer M; Grüner J; Klein A; Finke L; Klug K and 2 more

Journal:
Mol Genet Metab Rep

Publication Year: 2023

DOI:
10.1016/j.ymgmr.2023.101029

PMCID:
PMC10926200

PMID:
38469097

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Journal Information

Journal Title: Mol Genet Metab Rep

Detailed journal information not available.

Publication Details

Subject Category: Genetics & Heredity

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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50.0% Transparent
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"Declaration of Competing Interest The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results."

Evidence found in paper:

"Funding This project was supported by the Interdisciplinary Center for Clinical Research Würzburg (Interdisziplinäres Zentrum für Klinische Forschung (IZKF); N-375) and by the German Research Foundation (Deutsche Forschungsgemeinschaft (DFG), Sonderforschungsbereich SFB1158). J.G. was supported by DFG (KFO5001 ResolvePAIN, project ID: 426503586). N.Ü. was supported by DFG (UE171/15-1)."

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Last Updated: Aug 05, 2025