Hemizygous splicing variant in CNKSR2 results in X ‐linked intellectual developmental disorder

ConclusionsThe 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.

Source: Molecular Genetics & Genomic Medicine - February 10, 2024 Category: Genetics & Stem Cells Authors: Yuting Lou, Xinglei Shi, Guofa Su, Yufan Guo, Liuyan Gao, Ye Wang, Pu Miao, Jianhua Feng Tags: CLINICAL REPORT Source Type: research