Associated Papers
Phase separation as a possible mechanism for dosage sensitivity.
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Genome Biology, 2024
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Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations
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
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumors.
Ibrahim A et al.
Archives of Pathology & Laboratory Medicine, 2020
Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.
Boikos SA et al.
European Journal of Human Genetics : Ejhg, 2016
An overview on molecular biology of KIT/PDGFRA wild type (WT) gastrointestinal stromal tumours (GIST).
Nannini M et al.
Journal of Medical Genetics, 2013
Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.
Miettinen M et al.
The American Journal of Surgical Pathology, 2013
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