Associated Papers
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Truncating_Variants
SDHx-related pheochromocytoma/paraganglioma - genetic, clinical, and treatment outcomes in a series of 30 patients from a single center.
Donato S et al.
Endocrine, 2019
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.
Chia PH et al.
Elife, 2018
Autoregulation of MARCH1 expression by dimerization and autoubiquitination.
Bourgeois-Daigneault MC et al.
Journal of Immunology (baltimore, Md. : 1950), 2012
Acute infantile liver failure due to mutations in the TRMU gene.
Zeharia A et al.
American Journal of Human Genetics, 2009
Arabidopsis photorespiratory serine hydroxymethyltransferase activity requires the mitochondrial accumulation of ferredoxin-dependent glutamate synthase.
Jamai A et al.
The Plant Cell, 2009
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
Montalvo AL et al.
Human Mutation, 2006
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