Associated Papers
Case report: Early use of whole exome sequencing unveils HNRNPU-related neurodevelopmental disorder and answers additional clinical questions through reanalysis.
Dreikorn EN et al.
Frontiers in Genetics, 2024
Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis.
Hamdi-Rozé H et al.
American Journal of Hematology, 2016
Telomerase gene mutations are associated with cirrhosis formation.
Hartmann D et al.
Hepatology (baltimore, Md.), 2011
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