2026-10-12T18:12:39Z https://api.figshare.com/v2/oai

oai:figshare.com:article/33865763 2026-09-16T17:31:41Z category_7 category_13 category_24 category_873 category_39 category_46 category_734 category_931 category_64 category_132 portal_5 item_type_3 month_year_09_2026

<p>Details on the 6 most common pathogenic GLA variants found in our cohort.</p> Laura van Dussen (390149) Emilie V. Albers (24998618) Saskia N. van der Crabben (16648182) Ronald H. Lekanne Deprez (24998621) Astrid S. Plomp (21423718) Mirjam Langeveld (8371092) Medicine Genetics Evolutionary Biology Chemical Sciences not elsewhere classified Ecology Immunology Biological Sciences not elsewhere classified Information Systems not elsewhere classified Cancer Infectious Diseases wes based panels treatment effect data less specific symptoms genetically heterogeneous disorder div >< p individuals identified using current study confirms dutch fabry cohort milder clinical phenotype comparing current historical clinical clinical follow classical phenotype fabry disease variants established phenotypic shift higher proportion changing landscape broader range analyzing changes 64 different 319 patients <p>Details on the 6 most common pathogenic GLA variants found in our cohort.</p> 2026-09-16T17:31:34Z Dataset Dataset 10.1371/journal.pone.0358572.t002 https://figshare.com/articles/dataset/_p_Details_on_the_6_most_common_pathogenic_GLA_variants_found_in_our_cohort_p_/33865763 CC BY 4.0