Hemizygous splicing variant in CNKSR2 results in X-linked intellectual developmental disorder.
Yuting LouXinglei ShiGuofa SuYufan GuoLiuyan GaoYe WangPu MiaoJianhua FengPublished in: Molecular genetics & genomic medicine (2024)
The variant was predicted to be damaging to correct the translation of the CNKRS2 protein and was classified as likely pathogenic according to the ACMG guidelines.