Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.A96T
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SDHD

NM_003002.4:p.A96T

Associated Papers

Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.

Liu L et al.

Medcomm, 2025

41346570 (PubMed )
Supplement: MCO2-6-e70483-s002.xlsx › Tumour_cellularity

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

Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.

Charoenngam N et al.

European Journal of Endocrinology, 2025

40974092 (PubMed )
Supplement: lvaf191_supplementary_data.docx

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 › Missense_Variants

Kidney tumors associated with germline mutations of FH and SDHB show a CpG island methylator phenotype (CIMP).

Ricketts CJ et al.

Plos One, 2022

36455002 (PubMed )
Supplement: pone.0278108.s001.xlsx › Patient_Data

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

Jochmanova I et al.

Journal of Cancer Research and Clinical Oncology, 2017

Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.

Ricketts CJ et al.

The Journal of Urology, 2012

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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."