Associated Papers
Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.
Rana HQ et al.
Cancers, 2024
38473309 (PubMed )
Supplement: cancers-16-00947-s001.zip › Supplementary_Table_S2_-_INT2GRATE___HPPGL_Variant_Data_for_Patients__in_Cohort_2_.xlsx › Sheet1
Assembly of mitochondrial succinate dehydrogenase in human health and disease.
Cao K et al.
Free Radical Biology & Medicine, 2023
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
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.
Lin S et al.
European Journal of Human Genetics : Ejhg, 2021
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.
Jackson CB et al.
Journal of Medical Genetics, 2014
The genetic basis of isolated mitochondrial complex II deficiency.
Fullerton M et al.
Molecular Genetics and Metabolism, 0
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