RLIM-SPECIFIC ACTIVITY REPORTERS DEFINE VARIANT PATHOGENICITY IN TONNE-KALSCHEUER SYNDROME

Summary: Tonne-Kalscheuer syndrome (TOKAS; MIM: 300978) is an X-linked recessive disorder with devastating consequences for patients, such as intellectual disability, developmental delay, and multiple fleshlight automatique congenital abnormalities.TOKAS is associated with hemizygous variants in the RLIM gene, which encodes a RING-type E3 ubiquitin

The aim of this study is to determine the participation reasons and the benefits of volunteering in sport federations in Turkey.The data is collected through the semi-structured interviews with the volunteers that have a task in the various managerial levels of the sport federations.The semi-structured forms are developed afterdocument analyses and