Also known as BTD P391S.
According to http://www.arup.utah.edu/database/BTD/BTD_display.php this variant is benign. It has been observed as pathogenic only in combination with other variants.
Also known as BTD P391S.
According to http://www.arup.utah.edu/database/BTD/BTD_display.php this variant is benign. It has been observed as pathogenic only in combination with other variants.