Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes.
Grassi M., Laubscher B., Pandey A.V., Tschumi S., Graber F., Schaller A., Janner M., Aeberli D., Hewer E., Nuoffer J.M. et al., 2023/08. Molecular syndromology, 14 (4) pp. 347-361. Peer-reviewed.
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