Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.R230L
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SDHB

NM_003000.3:p.R230L

Associated Papers

Succinate dehydrogenase-related pheochromocytoma and paraganglioma (SDHx-PPGL): clinical and genetic insights from an Indian study.

Ambulkar KS et al.

Endocrine Connections, 2025

40981001 (PubMed )
Supplement: supplementary_materials.pdf

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

Comprehensive Genetic Study of Malignant Cervical Paraganglioma.

Snezhkina A et al.

International Journal of Molecular Sciences, 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 › Missense_Variants

Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.

Savatt JM et al.

Bmc Medicine, 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

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma-pheochromocytoma syndrome.

Greenberg SE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32741965 (PubMed )
Supplement: NIHMS1619684-supplement-Supplemental_Tables_S1-S3.xlsx › Table_S2

Germline SDHB-inactivating mutation in gastric spindle cell sarcoma.

Heilig CE et al.

Genes, Chromosomes & Cancer, 2020

The clinical utility of circulating neuroendocrine gene transcript analysis in well-differentiated paragangliomas and pheochromocytomas.

Pęczkowska M et al.

European Journal of Endocrinology, 2017

Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.

Pandit R et al.

European Journal of Endocrinology, 2016

Evaluation of Head and Neck Paragangliomas by Computed Tomography in Patients with Pheochromocytoma-Paraganglioma Syndromes.

Michałowska I et al.

Polish Journal of Radiology, 2016

Usefulness of Somatostatin Receptor Scintigraphy (Tc-[HYNIC, Tyr3]-Octreotide) and 123I-Metaiodobenzylguanidine Scintigraphy in Patients with SDHx Gene-Related Pheochromocytomas and Paragangliomas Detected by Computed Tomography.

Michałowska I et al.

Neuroendocrinology, 2015

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

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