Ma, M., Ganapathi, M., Zheng, Y., Tan, K.-L., Kanca, O., Bove, K. E., Quintanilla, N., Sag, S. O., Temel, S. G., LeDuc, C. A., McPartland, A. J., Pereira, E. M., Shen, Y., Hagen, J., Thomas, C. P., Nguyen Galván, N. T., Pan, X., Lu, S., Rosenfeld, J. A., … Bellen, H. J. (2024). 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. Genetics in Medicine, 26(7), 101125. https://doi.org/10.1016/j.gim.2024.101125
Subjects:
Carcinoma, Hepatocellular
(MeSH)
Developmental Disabilities
(MeSH)
Homozygote
(MeSH)
Liver Neoplasms
(MeSH)
Loss of Function Mutation
(MeSH)
Mutation, Missense
(MeSH)
Publication Type:
Article
Unique ID:
10.1016/j.gim.2024.101125
PMID:
Journal:
Publication Date:
Data Source:
PubMed