Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.T100_L101delFs
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SDHD

NM_003002.4:p.T100_L101delFs

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

Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours.

Loughrey PB et al.

Endocrine-related Cancer, 2022

Somatic Mutation Profiling in Head and Neck Paragangliomas.

Savvateeva M et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Mutation Frequency in Main Susceptibility Genes Among Patients With Head and Neck Paragangliomas.

Snezhkina AV et al.

Frontiers in Genetics, 2020

33391357 (PubMed )
Supplement: Data_Sheet_1.PDF

The 3PAs: An Update on the Association of Pheochromocytomas, Paragangliomas, and Pituitary Tumors.

Xekouki P et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2019

Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.

Richter S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30050099 (PubMed )
Supplement: NIHMS1505462-supplement-Supplementary_information_3.xlsx › SDHx_variants

Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum.

Niemeijer ND et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

15 YEARS OF PARAGANGLIOMA: The association of pituitary adenomas and phaeochromocytomas or paragangliomas.

O'Toole SM et al.

Endocrine-related Cancer, 2015

Succinate dehydrogenase deficiency is rare in pituitary adenomas.

Gill AJ et al.

The American Journal of Surgical Pathology, 2014

No difference in phenotype of the main Dutch SDHD founder mutations.

van Hulsteijn LT et al.

Clinical Endocrinology, 2013

Familial SDHA mutation associated with pituitary adenoma and pheochromocytoma/paraganglioma.

Dwight T et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?

Xekouki P et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

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