Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.L80R
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SDHD

NM_003002.4:p.L80R

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

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

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

Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.

Lin S et al.

European Journal of Human Genetics : Ejhg, 2021

34012134 (PubMed )
Supplement: 41431_2021_887_MOESM1_ESM.docx

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

Milionis V et al.

Clinical Case Reports, 2021

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

Ricketts CJ et al.

The Journal of Urology, 2012

[A young patient with paraganglioma syndrome type I. An interdisciplinary challenge].

Brase C et al.

Hno, 2012

The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

Burnichon N et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

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