Cohort-wide sequencing studies have revealed that the largest category of variants is those deemed ‘rare’, even for the subset located in coding regions (99% of known coding variants are seen in less ...

A phenotype refers to the observable characteristics or traits of an organism that result from the interaction between its genotype (genetic makeup) and the environment. It encompasses an organism's ...

This retrospective study was conducted at 12 medical centers in Korea. A total of 124 probands (85 males and 39 females) diagnosed with XLAS between September 2000 and June 2021 were enrolled. The ...