A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.
Clinical genetics, vol.100, no.4, pp.486-488, 2021 (SCI-Expanded, Scopus)
- Publication Type: Article / Letter
- Volume: 100 Issue: 4
- Publication Date: 2021
- Doi Number: 10.1111/cge.14028
- Journal Name: Clinical genetics
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
- Page Numbers: pp.486-488
- Bilecik Şeyh Edebali University Affiliated: Yes