Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.

Ma M., Ganapathi M., Zheng Y., Tan K., Kanca O., Bove K. E., ...More

Genetics in medicine : official journal of the American College of Medical Genetics, no.-, pp.101125, 2024 (SCI-Expanded)

• Publication Type: Article / Article
• Volume: Issue: -
• Publication Date: 2024
• Doi Number: 10.1016/j.gim.2024.101125
• Journal Name: Genetics in medicine : official journal of the American College of Medical Genetics
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
• Page Numbers: pp.101125
• Bursa Uludag University Affiliated: Yes