Fig. 2

Distribution of articles and unique patients reviewed, proportion of variant effect and combination for each gene. a Number of articles published in English and Chinese. b Number of patients published in English and Chinese articles. c Proportion of missense and loss-of-function (Lof) variants. Other: Proportion of in-frame insertion/deletions. d Proportion of patients with missense/missense, missense/Lof and Lof/Lof. Other: Proportion of patients with in-fame insertion/deletions and only one allele identified