Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain
the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in
Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles
and JavaScript.
Schematic of the gene structure of long isoform of TMEM260 (ENST00000261556.6) and short isoform of TMEM260 (ENST000005338838.1). The variants reported in this study (shown in bold and red) and the pathogenic variants have been published previously [8,9,10,11,12]
