Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.R27*
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SDHD

NM_003002.4:p.R27*

Associated Papers

Functional Characterization of SDHB Variants Clarifies Hereditary Pheochromocytoma and Paraganglioma Risk and Genotype-Phenotype Relationships.

Lee S et al.

The Journal of Clinical Investigation, 2025

41252211 (PubMed )
Supplement: jci-136-198165-s090.xlsx › Supplemental_Table_1

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

Expanding the clinicopathological spectrum of succinate dehydrogenase-deficient renal cell carcinoma with a focus on variant morphologies: a study of 62 new tumors in 59 patients.

Fuchs TL et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.

Jochmanova I et al.

Journal of Cancer Research and Clinical Oncology, 2017

Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas.

Klein RD et al.

Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2008

The pressure rises: update on the genetics of phaeochromocytoma.

Maher ER et al.

Human Molecular Genetics, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."