Fig. 2.

Genetic location of the PUF60 variants identified to date. a Variants identified in PUF60 which are loss of function variants (stop codon, splicing and frameshift mutations) on top and missense variants below the gene. The variant reported in this case showed with square frame. We used bar to report the variants and “×” represents the number of cases. The size of exon and intron is not proportional. b Distribution of amino acid changes related to the protein domains RRM, RNA recognition motif in PUF60 protein