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
Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients.
Hu C et al.
Frontiers in Pediatrics, 2021
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.
Burnichon N et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
A novel missense mutation in the paired domain of human PAX9 causes oligodontia.
Zhao J et al.
American Journal of Medical Genetics. Part A, 2007
Structure and evolutionary analysis of a non-biological ATP-binding protein.
Mansy SS et al.
Journal of Molecular Biology, 2007
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.
Friedman JS et al.
American Journal of Human Genetics, 2006
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