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., ...Daha Fazla

Genetics in medicine : official journal of the American College of Medical Genetics, sa.-, ss.101125, 2024 (SCI-Expanded, Scopus)