Xiaoyun Hu Tao Huang Yun Liu Lina Zhang Li Zhu Xiaohong Peng Sufang Zhang
10.2147/PGPM.S327252
Pharmgenomics Pers Med
2021 Dec 4;14:1583-1589.
cohen syndrome vps13b gene heterozygous deletion heterozygous mutation
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/34898996/
Case Reports
PMC8657012
34898996
Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing
2021