ArticleNeurology. Genetics2025
A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease.
Article in Neurology. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
11 authors.
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Abstract
Background and Objectives: Fabry disease (FD) is a multisystemic disorder caused by pathogenic variants in the α-galactosidase ( Methods: By leveraging Centogene's Biodatabank, we reassessed our classification and analyzed all samples (n = 38,242) molecularly tested for FD from Germany between 2015 and 2020 for GLA genotypes, clinical presentations, and biochemical phenotypes. Results: The allele frequency of Discussion:
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