Associated Papers
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
41300778 (PubMed )
Supplement: genes-16-01325-s001.zip › genes-3897287-supplementary.pdf
Screening for Fabry disease in patients with left ventricular hypertrophy in China: A multicentre and prospective study.
Lin Z et al.
Esc Heart Failure, 2024
Unambiguous Interpretation of the Pathogenicity of the GLA c.547+3A>G Variant Causing Fabry Disease.
Urtis M et al.
Genes, 2024
All reported non-canonical splice site variants in GLA cause aberrant splicing.
Okada E et al.
Clinical and Experimental Nephrology, 2023
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T et al.
Diagnostics (basel, Switzerland), 2021
Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis.
Seo J et al.
Journal of Human Genetics, 2016
Select a paper to view details