Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.G148D
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SDHD

NM_003002.4:p.G148D

Associated Papers

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

Instability of succinate dehydrogenase in SDHD polymorphism connects reactive oxygen species production to nuclear and mitochondrial genomic mutations in yeast.

Chang YL et al.

Antioxidants & Redox Signaling, 2015

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

Mutations associated with succinate dehydrogenase D-related malignant paragangliomas.

Timmers HJ et al.

Clinical Endocrinology, 2008

Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

Benn DE et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

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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."