Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.D138N
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SDHB

NM_003000.3:p.D138N

Associated Papers

Systematic Review and Case Report of Multimodal Therapy for Treatment of Advanced Thoracic Spine Paraganglioma.

Treffy RW et al.

World Neurosurgery, 2025

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

Head/neck paragangliomas: focus on tumor location, mutational status and plasma methoxytyramine.

Richter S et al.

Endocrine-related Cancer, 2022

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

Garrett A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

34906457 (PubMed )
Supplement: mmc1.xlsx › SupTable2_Variant_Counts

SDH-deficient renal cell carcinoma: A case report associated with a novel germline mutation.

Milionis V et al.

Clinical Case Reports, 2021

Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma.

Albattal S et al.

Oncotarget, 2019

SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery.

Saxena N et al.

Journal of the National Cancer Institute, 2016

A SDHB malignant paraganglioma with dramatic response to temozolomide-capecitabine.

Nozières C et al.

European Journal of Endocrinology, 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."